TP63-Related Ectodermal Dysplasia Spectrum — Disease Characteristics Research Report

Target Disease

• Disease name: TP63-Related Ectodermal Dysplasia Spectrum (TP63-related disorders; p63-associated disorders) (cong2026p63inskin pages 12-14, zhuang2025molecularcharacterizationof pages 1-2)
• Category: Genetic, primarily ectodermal development / epithelial stem cell disorder (cong2026p63inskin pages 12-14, salois2023effectsoftp63 pages 3-4)
• MONDO ID: Not identified in the retrieved evidence set (no MONDO term was present in the ingested full texts).

Executive summary

TP63-related ectodermal dysplasia spectrum comprises multiple autosomal-dominant developmental syndromes caused by heterozygous pathogenic variants in TP63 (p63), a p53-family transcription factor essential for epithelial development and stem cell maintenance. The spectrum includes at least EEC, AEC (Hay–Wells), ADULT, limb–mammary syndrome, Rapp–Hodgkin syndrome, and split-hand/foot malformation 4 (SHFM4), with significant genotype–phenotype correlation by protein domain (DBD/OD vs SAM/TI) and allele-specific mechanisms (dominant-negative, gain-of-function, aggregation, isoform imbalance). Recent 2023–2024 work expands clinically actionable domains: (i) iPSC and in vivo models in AEC link hemidesmosome/focal-adhesion downregulation to skin erosions, (ii) rare neonatal T-cell lymphopenia/athymia presentations detected by newborn TREC screening with WES/WGS and treated with cultured thymus tissue implant, and (iii) a large 2023 cohort shows TP63 gain-of-function variants contribute ~0.78% of idiopathic primary ovarian insufficiency cases via constitutive TAp63α tetramerization and oocyte apoptosis. (salois2023effectsoftp63 pages 3-4, gall2024casereportartificial pages 2-3, huang2023tp63gainoffunctionmutations pages 2-3)

Table: This table summarizes the umbrella TP63-related ectodermal dysplasia concept and the major named syndromes included in the spectrum. It highlights synonyms, any OMIM/MIM or prevalence details explicitly available in the retrieved texts, and the TP63 protein domains most often implicated.

1. Disease information

1.1 What is the disease?

TP63-related ectodermal dysplasia spectrum is an umbrella term for clinically overlapping developmental syndromes caused by germline TP63 variants, characterized by variable combinations of: - ectodermal defects (skin, hair, nails, teeth, sweat glands), - craniofacial anomalies (cleft lip/palate), - limb malformations (ectrodactyly/split-hand-foot), - and, in some individuals, severe ocular surface disease (limbal stem cell deficiency) and rarer immune or gonadal phenotypes. (ahuja2023ectrodactylyectodermaldysplasiaclefting pages 2-4, iorio2023…patientsaffected pages 9-11, gall2024casereportartificial pages 2-3)

1.2 Key identifiers (from retrieved evidence)

• TP63 gene: OMIM/MIM 603273 (цабаи2025нарушенияполовогоразвития pages 10-10)
• EEC3: OMIM #604292 (marakhonov2024ararecase pages 4-5)
• Limb–mammary syndrome: MIM #603543 (ahuja2023ectrodactylyectodermaldysplasiaclefting pages 2-4)

Not found in retrieved documents: MONDO ID, MeSH ID, ICD-10/ICD-11 codes.

1.3 Synonyms and alternative names

• EEC: ectrodactyly–ectodermal dysplasia–clefting (iorio2023…patientsaffected pages 9-11)
• AEC: ankyloblepharon–ectodermal defects–cleft lip/palate; Hay–Wells syndrome (ahuja2023ectrodactylyectodermaldysplasiaclefting pages 4-4)
• ADULT: acro-dermato-ungual-lacrimal-tooth syndrome (zhou2023casereportadult pages 2-4)
• SHFM4: split-hand/foot malformation 4 (zhuang2025molecularcharacterizationof pages 1-2)

1.4 Evidence source types

The present synthesis draws on: - Human clinical reports/series (2023–2024): ocular EEC/AEC series and multiple case reports including lacrimal surgery and newborn immunology presentations (iorio2023…patientsaffected pages 9-11, zhou2023casereportadult pages 2-4, gall2024casereportartificial pages 2-3) - Human genetics cohort study (2023): TP63 gain-of-function variants in primary ovarian insufficiency (huang2023tp63gainoffunctionmutations pages 2-3) - Mechanistic experimental study (2023): iPSC-derived keratinocytes, gene-corrected lines, and in vivo validation in mice for AEC skin erosions (salois2023effectsoftp63 pages 3-4) - Review synthesis (2025–2026): domain/genotype correlations and isoform biology used as contextual “expert consensus” sources (cong2026p63inskin pages 12-14, murari2025p63amaster pages 4-6)

2. Etiology

2.1 Disease causal factors

• Primary cause: germline pathogenic variants in TP63. Disorders are usually autosomal dominant, including EEC and AEC (cong2026p63inskin pages 12-14).
• Pathogenic mechanisms are allele- and domain-dependent:
• DBD/OD variants cluster at hotspot residues and can act via dominant-negative or loss-of-function effects (cong2026p63inskin pages 12-14, murari2025p63amaster pages 4-6).
• SAM-domain variants (common in AEC) can lead to aggregation and functional loss, and (as shown experimentally) dysregulate adhesion gene programs (cong2026p63inskin pages 12-14, salois2023effectsoftp63 pages 3-4).
• TAp63α C-terminal/TID-disrupting variants cause gain-of-function constitutive activation in oocytes, driving apoptosis and ovarian reserve depletion (huang2023tp63gainoffunctionmutations pages 2-3, vanderschelden2023heterozygoustp63pathogenic pages 1-2).

2.2 Risk factors

• Genetic: carrying a pathogenic TP63 variant. A SHFM4 family demonstrates incomplete penetrance for TP63 p.Arg319His (affected father/proband, unaffected carrier relatives), indicating variable expressivity and penetrance (zhuang2025molecularcharacterizationof pages 1-2, zhuang2025molecularcharacterizationof pages 4-6).
• Environmental: no direct gene–environment risk modifiers were identified in the retrieved evidence set.

2.3 Protective factors

No protective genetic or environmental factors were identified in the retrieved texts.

2.4 Gene–environment interactions

No direct GxE evidence was identified in the retrieved texts.

3. Phenotypes (with HPO suggestions)

Major phenotype groupings, onset patterns, and relevant HPO mappings are summarized below.

Table: This table maps clinically important features reported across the TP63-related ectodermal dysplasia spectrum to suggested HPO terms, typical syndrome associations, and brief onset/course notes. It is useful as a structured phenotype curation aid for knowledge-base entry and differential diagnosis.

Key clinically prominent phenotypes supported by 2023–2024 evidence include: - Progressive ocular surface disease in EEC: progressive limbal stem cell deficiency (LSCD) is described as the most disabling manifestation in most patients, leading to corneal thinning, neovascularization, pannus, conjunctivalization, and gradual vision loss/blindness, compounded by meibomian gland agenesis and tear-film instability (human clinical series) (iorio2023…patientsaffected pages 9-11). - AEC skin erosions: extensive skin erosions/fragility in AEC with molecularly defined adhesion defects (see Mechanisms) (salois2023effectsoftp63 pages 3-4). - Congenital lacrimal abnormalities in ADULT: lacrimal duct aplasia/stenosis with chronic epiphora, treated surgically (zhou2023casereportadult pages 2-4). - Rare immune phenotype: newborn-detected profound T-cell lymphopenia and suspected congenital athymia in TP63-related syndrome (gall2024casereportartificial pages 2-3). - Gonadal phenotype: isolated primary ovarian insufficiency due to TP63 gain-of-function variants (huang2023tp63gainoffunctionmutations pages 2-3).

Quality-of-life impact is most explicitly documented for ocular disease (severe photophobia, marked vision impairment, multiple surgeries, and reports of total ocular surface impairment) (iorio2023…patientsaffected pages 9-11).

4. Genetic / molecular information

4.1 Causal gene

• TP63 (tumor protein p63), a p53-family transcription factor; multiple isoforms including TAp63 and ΔNp63 with distinct functions (cong2026p63inskin pages 16-19, murari2025p63amaster pages 4-6).

4.2 Variant spectrum and genotype–phenotype correlations

• Domain clustering: A 2026 review synthesis reports that ~80% of disease-causing mutations cluster in DNA-binding domain (DBD) and oligomerization domain (OD); AEC is strongly associated with SAM-domain lesions (cong2026p63inskin pages 12-14).
• DBD hotspot residues: R204, R227, R279, R280, R304 (cong2026p63inskin pages 12-14).
• SHFM4 incomplete penetrance: TP63 p.Arg319His demonstrates unaffected carriers in the same pedigree (zhuang2025molecularcharacterizationof pages 1-2).

4.3 Functional consequences (examples)

• Dominant-negative / reduced transactivation (EEC3 example): TP63 p.Arg343Trp (DBD) is reported to reduce transactivation activity in a dominant-negative manner and is associated with EEC and neonatal lymphopenia (marakhonov2024ararecase pages 1-2).
• Gain-of-function (SHFM4 example): p.Arg319His was hypothesized to act as a gain-of-function allele upregulating downstream targets (CDH3, DLX5), disrupting p63–DLX signaling and apical ectodermal ridge stratification (zhuang2025molecularcharacterizationof pages 1-2, zhuang2025molecularcharacterizationof pages 6-8).
• Gain-of-function in oocytes (POI): TID-disrupting variants cause constitutive TAp63α tetramers and oocyte apoptosis (huang2023tp63gainoffunctionmutations pages 2-3).

4.4 Population frequency

• Some variants are reported as absent from gnomAD (e.g., p.Arg343Trp) in clinical genetic evaluation (marakhonov2024ararecase pages 4-5).

4.5 Modifier genes / epigenetics

No explicit modifier genes or disease-specific epigenetic signatures were identified in the retrieved evidence set.

5. Environmental information

No non-genetic environmental contributors were identified in the retrieved evidence set; TP63 disorders are primarily monogenic developmental disorders.

6. Mechanism / pathophysiology

6.1 Core concepts (current understanding)

TP63 encodes multiple isoforms; ΔNp63 is central to epithelial stemness and keratinocyte programs, whereas TAp63α plays a critical role in oocyte quality control and apoptosis. Isoform imbalance can alter keratinocyte fate decisions (cong2026p63inskin pages 12-14, murari2025p63amaster pages 4-6).

6.2 Mechanistic chains by major phenotype

A) Skin erosions in AEC (2023 mechanistic advance)

Human iPSC + in vivo validation demonstrate that AEC-associated TP63 SAM-domain mutations can drive a coordinated reduction of hemidesmosome and focal-adhesion programs: - Salois et al. (Experimental Dermatology, 2023-07; https://doi.org/10.1111/exd.14885) used patient-derived iPSC lines (AEC mutations F513S, I537T, R598L), created gene-corrected isogenic controls, and differentiated both into keratinocytes. They identified downregulation of hemidesmosome components such as ITGA6, ITGB4, COL17A1, cytoplasmic adaptors DST, PLEC, and laminin-332 genes LAMA3, LAMB3, LAMC2, with impaired keratinocyte adhesion and migration across ECM substrates. They propose integrin defects weaken keratinocyte anchorage to basement membrane and contribute to erosions (salois2023effectsoftp63 pages 3-4, salois2023effectsoftp63 pages 4-6). - These changes were corroborated in chimeric mice expressing TP63-AEC transgene and in AEC patient skin (salois2023effectsoftp63 pages 3-4, salois2023effectsoftp63 pages 7-11).

Visual evidence: figures summarizing downregulation and schematic model are available from the paper (salois2023effectsoftp63 media 83f76dc6, salois2023effectsoftp63 media e89fc6fc).

Suggested ontology terms: - GO biological process: cell adhesion; epithelial cell migration; extracellular matrix organization; hemidesmosome assembly (supported mechanistically) (salois2023effectsoftp63 pages 3-4). - GO cellular component: hemidesmosome; focal adhesion; basement membrane (salois2023effectsoftp63 pages 3-4). - CL cell types: keratinocyte; epidermal basal cell (ΔNp63-high) (cong2026p63inskin pages 12-14, salois2023effectsoftp63 pages 3-4).

B) Limb malformations (EEC/SHFM4)

Mechanistic evidence links TP63 to apical ectodermal ridge (AER) programs and downstream transcription factors: - SHFM4 p.Arg319His is hypothesized to disrupt the p63–DLX signaling pathway; DLX5 is a downstream gene altered in patient RNA-seq/qPCR (zhuang2025molecularcharacterizationof pages 1-2). - The same study contextualizes prior work that p63 regulates AER targets and that p63 loss reduces FGF8 causing limb defects (zhuang2025molecularcharacterizationof pages 6-8).

Suggested GO/CL terms: - GO BP: limb development; regulation of transcription involved in pattern specification. - CL: ectodermal cell; limb bud epithelial cell.

C) Ocular surface disease (EEC)

• The 2023 ocular series emphasizes progressive LSCD as the main driver of corneal thinning, neovascularization, pannus, and conjunctivalization, leading to vision loss/blindness, with additional contribution from Meibomian gland agenesis and lacrimal dysfunction (iorio2023…patientsaffected pages 9-11).

D) Immune phenotype (rare): thymic epithelial dysfunction → T-cell lymphopenia

• A 2024 case report used newborn screening (undetectable TREC), rapid WGS, and an artificial thymic organoid assay, supporting a thymic stromal/epithelial rather than hematopoietic intrinsic defect; the patient received allogenic cultured thymus tissue implant with early evidence of thymopoiesis post-implant (gall2024casereportartificial pages 2-3).
• A separate 2024 report identified TP63 p.Arg343Trp (DBD) in a newborn with T-cell lymphopenia detected by TREC screening (marakhonov2024ararecase pages 1-2).

Suggested terms: - CL: thymic epithelial cell; T cell. - GO BP: thymus development; T cell differentiation.

E) Primary ovarian insufficiency (TAp63α gain-of-function)

• Huang et al. (J Clin Invest, 2023-03; https://doi.org/10.1172/jci162315) studied 1,030 women with POI and identified heterozygous TP63 variants; they report that gain-of-function TP63 mutations “accounted for 0.78% (8 of 1,030) of the studied cases” and that variants disrupting the transactivation inhibitory domain (TID) cause constitutive tetramerization/activation, upregulation of apoptosis programs, and oocyte depletion in mouse models (huang2023tp63gainoffunctionmutations pages 2-3, huang2023tp63gainoffunctionmutations pages 3-5).

Suggested terms: - GO BP: intrinsic apoptotic signaling pathway; oocyte development. - CL: oocyte.

7. Anatomical structures affected

Primary structures (with UBERON suggestions): - Skin / epidermis (UBERON:0002097) and basement membrane zone (supported by hemidesmosome defects) (salois2023effectsoftp63 pages 3-4) - Hair follicles and nails (ectodermal appendages) (ahuja2023ectrodactylyectodermaldysplasiaclefting pages 2-4) - Teeth (tooth development defects: hypodontia/oligodontia) (ahuja2023ectrodactylyectodermaldysplasiaclefting pages 2-4) - Limb autopod (split-hand/foot; ectrodactyly) (zhuang2025molecularcharacterizationof pages 1-2) - Eye / cornea / limbus / meibomian glands / lacrimal system (progressive ocular surface disease; lacrimal duct anomalies) (iorio2023…patientsaffected pages 9-11, zhou2023casereportadult pages 2-4) - Thymus (suspected congenital athymia; thymic epithelial involvement) (gall2024casereportartificial pages 2-3) - Ovary / oocytes (POI due to TAp63α GOF variants) (huang2023tp63gainoffunctionmutations pages 2-3)

Subcellular/localization themes: - Nucleus (transcription factor), chromatin/enhancers (p63 pioneer activity) (cong2026p63inskin pages 16-19) - Cell–matrix junctions: hemidesmosomes, focal adhesions (salois2023effectsoftp63 pages 3-4)

8. Temporal development

• Most features are congenital or childhood-onset (limb, clefts, ectodermal appendage defects, skin erosions), but some complications are progressive:
• EEC ocular disease: LSCD often progressive with severe impairment in adulthood (iorio2023…patientsaffected pages 9-11).
• POI: amenorrhea in reported patients ranged from 13–29 years (huang2023tp63gainoffunctionmutations pages 2-3).
• Immune phenotype: T-cell lymphopenia identified at birth via newborn screening (gall2024casereportartificial pages 2-3, marakhonov2024ararecase pages 1-2).

9. Inheritance and population

9.1 Inheritance pattern

• Predominantly autosomal dominant for core syndromes such as EEC and AEC (cong2026p63inskin pages 12-14).
• Incomplete penetrance/variable expressivity documented in SHFM4 family with TP63 p.Arg319His (zhuang2025molecularcharacterizationof pages 1-2).

9.2 Epidemiology

• EEC prevalence: ~1–9 per 100,000 newborns (quoted from Orpha.net in a 2023 ocular clinical series) (iorio2023…patientsaffected pages 9-11).
• Robust prevalence/incidence estimates for AEC/ADULT/LMS/SHFM4 were not present in the retrieved evidence set.

10. Diagnostics

10.1 Clinical recognition

Key clinical patterns: - EEC: ectrodactyly + ectodermal signs + clefting; high risk of ocular surface disease (ahuja2023ectrodactylyectodermaldysplasiaclefting pages 2-4, iorio2023…patientsaffected pages 9-11). - AEC: ankyloblepharon and skin erosions prominent (ahuja2023ectrodactylyectodermaldysplasiaclefting pages 2-4, ahuja2023ectrodactylyectodermaldysplasiaclefting pages 4-4). - ADULT: lacrimal anomalies and mammary hypoplasia; typically no clefting (ahuja2023ectrodactylyectodermaldysplasiaclefting pages 2-4, zhou2023casereportadult pages 2-4).

10.2 Genetic testing approaches used in recent reports

• WES with Sanger confirmation: used for ADULT diagnosis (TP63 p.G173V) (zhou2023casereportadult pages 2-4).
• Newborn screening (TREC) → confirmatory immunophenotyping + WES/WGS: detected TP63-associated T-cell lymphopenia (marakhonov2024ararecase pages 1-2, gall2024casereportartificial pages 2-3).
• WES + karyotype/CMA + ACMG classification + RNA-seq/qPCR (research setting): used to establish SHFM4 p.Arg319His with incomplete penetrance and proposed mechanism (zhuang2025molecularcharacterizationof pages 4-6, zhuang2025molecularcharacterizationof pages 1-2).

10.3 Differential diagnosis considerations

TP63 syndromes overlap; helpful differentiators described in clinical sources include: - AEC: ankyloblepharon + skin erosions, - ADULT: mammary/nipple hypoplasia and freckling with lacrimal disease and typically absent clefting, - LMS: limb + mammary defects with limited skin involvement, - EEC: classic triad and high ocular morbidity. (ahuja2023ectrodactylyectodermaldysplasiaclefting pages 2-4, zhou2023casereportadult pages 2-4)

11. Outcome / prognosis

• Overall survival: often described as non–life-threatening for EEC, but morbidity can be substantial (iorio2023…byp63associated pages 9-11).
• Ocular prognosis: progressive LSCD can lead to severe vision loss/blindness and major QoL impact; multiple procedures are often required (iorio2023…patientsaffected pages 9-11).
• Immune phenotype: when present, can be severe (SCID-like T-cell lymphopenia) and may require thymus implantation; early evidence of thymopoiesis post-implant was observed in the 2024 case report (gall2024casereportartificial pages 2-3).
• Reproductive prognosis: POI impacts fertility; mechanistic studies suggest TAp63α activation as potential therapeutic target, but no approved TP63-directed therapy is reported (huang2023tp63gainoffunctionmutations pages 10-11).

12. Treatment

12.1 Current applications and real-world implementations (documented)

• Ocular surface management in EEC/AEC: tear substitutes, steroid drops, tear plugs, tear duct flushing, corneal transplantation, amniotic membrane grafting, cataract surgery (iorio2023…patientsaffected pages 9-11).
• Lacrimal surgery in ADULT: binocular dacryocystorhinostomy with artificial lacrimal duct implantation with reported success (zhou2023casereportadult pages 2-4).
• Immune-directed intervention for suspected athymia: allogenic cultured thymus tissue implant after functional ATO assay supported thymic stromal defect (gall2024casereportartificial pages 2-3).

12.2 Experimental / emerging therapeutic directions (as reported in review/reference synthesis)

• Allele-specific siRNA strategies to restore mutant p63-associated stem cell function in ocular contexts are cited as a translational direction (iorio2023…patientsaffected pages 14-14).
• Broader genome editing/stem cell and small-molecule approaches are discussed in later review synthesis, but detailed clinical evidence is outside the 2023–2024 primary dataset retrieved here (cong2026p63inskin pages 14-16).

12.3 Suggested MAXO terms (examples)

See intervention mapping table:

Table: This table links TP63 variant classes and domain-specific mechanisms to the main syndromic phenotypes, diagnostic workflows, and real-world interventions reported across the TP63-related ectodermal dysplasia spectrum. It is useful for connecting molecular interpretation to practical disease management.

13. Prevention

No primary prevention exists for germline TP63 disorders; prevention focuses on: - Genetic counseling and discussion of recurrence risk, especially given variable expressivity/incomplete penetrance (zhuang2025molecularcharacterizationof pages 1-2). - Prenatal diagnosis is implicated as relevant in TP63 disorders (noted in reference discussion) (iorio2023…patientsaffected pages 14-14). - Secondary prevention through early detection of high-morbidity complications (ocular surveillance; newborn immune screening when applicable) (iorio2023…patientsaffected pages 9-11, gall2024casereportartificial pages 2-3).

14. Other species / natural disease

No naturally occurring non-human TP63 ectodermal dysplasia disease models or veterinary reports were identified in the retrieved evidence set.

15. Model organisms

Key model systems and their relevance: - AEC skin fragility models (2023): patient iPSC-derived keratinocytes with gene-corrected controls; chimeric mice expressing TP63-AEC transgene; recapitulate adhesion defects implicated in erosions (salois2023effectsoftp63 pages 3-4, salois2023effectsoftp63 pages 7-11). - POI models (2023): p63+/ΔTID and p63+/R647C mice show rapid postnatal oocyte depletion/POI-like phenotype, supporting gain-of-function mechanism in oocytes (huang2023tp63gainoffunctionmutations pages 3-5, huang2023tp63gainoffunctionmutations pages 5-7). - Developmental limb model context: p63−/− mice associated with reduced AER FGF signaling and limb defects (cited mechanistic context) (zhuang2025molecularcharacterizationof pages 6-8). - Ex vivo functional assay model (2024): artificial thymic organoid assay to separate hematopoietic vs thymic stromal causes of T-cell lymphopenia (gall2024casereportartificial pages 2-3).

Key statistics (from recent studies)

• EEC prevalence: ~1–9 per 100,000 newborns (Orpha.net quote in 2023 clinical series) (iorio2023…patientsaffected pages 9-11).
• Primary ovarian insufficiency: TP63 gain-of-function variants “accounted for 0.78% (8 of 1,030) of the studied cases” in a 2023 cohort; age of amenorrhea 13–29 years (huang2023tp63gainoffunctionmutations pages 2-3).

Notable 2023–2024 developments (prioritized)

1. AEC mechanism clarified in human iPSC models: coordinated downregulation of hemidesmosome/focal adhesion genes with functional adhesion/migration impairment, validated in vivo and in patient skin (Salois et al., 2023-07; https://doi.org/10.1111/exd.14885) (salois2023effectsoftp63 pages 3-4, salois2023effectsoftp63 media 83f76dc6).
2. Newborn screening + genomics revealing immune phenotypes: TP63 variants identified in newborns with low/undetectable TREC; one 2024 case used ATO assay to guide thymus tissue implantation (Gall et al., 2024-09; https://doi.org/10.3389/fimmu.2024.1438383) (gall2024casereportartificial pages 2-3).
3. Large POI cohort genetics: TP63 GOF variants quantitatively implicated in idiopathic POI with mechanistic mouse validation (Huang et al., 2023-03; https://doi.org/10.1172/jci162315) (huang2023tp63gainoffunctionmutations pages 2-3).

Evidence limitations (for knowledge base curation)

• MONDO/ICD/MeSH identifiers and comprehensive epidemiology for non-EEC syndromes were not available in the retrieved full texts.
• Many phenotype frequencies (percent affected, penetrance estimates beyond specific pedigrees) are not quantified in the 2023–2024 sources retrieved.
• Some “expert synthesis” in this report relies on 2025–2026 reviews for domain-level framing and isoform biology; primary mechanistic and clinical claims are grounded in the 2023–2024 studies cited above (cong2026p63inskin pages 12-14, salois2023effectsoftp63 pages 3-4).

References

1. (cong2026p63inskin pages 12-14): Yujia Cong, Zhenglin He, Hanming Hao, Haoran Chen, Anqi Chen, Chunyi Li, Yue Hu, and Xianling Cong. P63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials. Cell Death Discovery, Mar 2026. URL: https://doi.org/10.1038/s41420-026-03060-8, doi:10.1038/s41420-026-03060-8. This article has 0 citations and is from a peer-reviewed journal.

2. (zhuang2025molecularcharacterizationof pages 1-2): Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, and Chunnuan Chen. Molecular characterization of a rare tp63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-dlx signaling pathway. BMC Genomics, Feb 2025. URL: https://doi.org/10.1186/s12864-025-11297-3, doi:10.1186/s12864-025-11297-3. This article has 0 citations and is from a peer-reviewed journal.

3. (salois2023effectsoftp63 pages 3-4): Maddison N. Salois, Jessica A. Gugger, Saiphone Webb, Christina E. Sheldon, Shirley P. Parraga, G. Michael Lewitt, Dorothy K. Grange, Peter J. Koch, and Maranke I. Koster. Effects of tp63 mutations on keratinocyte adhesion and migration. Experimental Dermatology, 32:1575-1581, Jul 2023. URL: https://doi.org/10.1111/exd.14885, doi:10.1111/exd.14885. This article has 5 citations and is from a domain leading peer-reviewed journal.

4. (gall2024casereportartificial pages 2-3): Alevtina Gall, Marita Bosticardo, Stacey Ma, Karin Chen, Kayla Amini, Francesca Pala, Ottavia M. Delmonte, Tara Wenger, Michael Bamshad, John Sleasman, Matthew Blessing, Nicolai S. C. van Oers, Luigi D. Notarangelo, and M. Teresa de la Morena. Case report: artificial thymic organoids facilitate clinical decisions for a patient with a tp63 variant and severe persistent t cell lymphopenia. Frontiers in Immunology, Sep 2024. URL: https://doi.org/10.3389/fimmu.2024.1438383, doi:10.3389/fimmu.2024.1438383. This article has 3 citations and is from a peer-reviewed journal.

5. (huang2023tp63gainoffunctionmutations pages 2-3): Chengzi Huang, Simin Zhao, Yajuan Yang, T. Guo, Hanni Ke, Xinling Mi, Yingying Qin, Zi-Jiang Chen, and Shidou Zhao. Tp63 gain-of-function mutations cause premature ovarian insufficiency by inducing oocyte apoptosis. The Journal of Clinical Investigation, Mar 2023. URL: https://doi.org/10.1172/jci162315, doi:10.1172/jci162315. This article has 38 citations.

6. (iorio2023…patientsaffected pages 9-11): E Di Iorio, F Bonelli, and R Bievel-Radulescu. … patients affected by p63-associated disorders: ectrodactyly-ectodermal dysplasia-clefting (eec) and ankyloblepharon-ectodermal defects-cleft lip palate (aec …. Unknown journal, 2023.

7. (ahuja2023ectrodactylyectodermaldysplasiaclefting pages 4-4): S Ahuja. Ectrodactyly-ectodermal dysplasia clefting syndrome-a rare case. Unknown journal, 2023.

8. (ahuja2023ectrodactylyectodermaldysplasiaclefting pages 2-4): S Ahuja. Ectrodactyly-ectodermal dysplasia clefting syndrome-a rare case. Unknown journal, 2023.

9. (cong2026p63inskin pages 14-16): Yujia Cong, Zhenglin He, Hanming Hao, Haoran Chen, Anqi Chen, Chunyi Li, Yue Hu, and Xianling Cong. P63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials. Cell Death Discovery, Mar 2026. URL: https://doi.org/10.1038/s41420-026-03060-8, doi:10.1038/s41420-026-03060-8. This article has 0 citations and is from a peer-reviewed journal.

10. (zhou2023casereportadult pages 2-4): Jichao Zhou, Yuchen Wang, Yinghong Zhang, Debo You, and Yi Wang. Case report: adult syndrome: a rare case of congenital lacrimal duct abnormality. Frontiers in Genetics, Oct 2023. URL: https://doi.org/10.3389/fgene.2023.1150613, doi:10.3389/fgene.2023.1150613. This article has 5 citations and is from a peer-reviewed journal.

11. (zhuang2025molecularcharacterizationof pages 9-10): Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, and Chunnuan Chen. Molecular characterization of a rare tp63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-dlx signaling pathway. BMC Genomics, Feb 2025. URL: https://doi.org/10.1186/s12864-025-11297-3, doi:10.1186/s12864-025-11297-3. This article has 0 citations and is from a peer-reviewed journal.

12. (цабаи2025нарушенияполовогоразвития pages 10-10): П.Н. Цабай, А.А. Докшукина, Евгения Александровна Шубина, З. Х. Кумыкова, З. К. Батырова, Т. О. Кочеткова, А. Ю. Гольцов, С. В. Юренева, and Д. Ю. Трофимов. Нарушения полового развития у девочек-подростков, вызванные вариантами в гене tp63: серия клинических случаев. Педиатрия. Восточная Европа, 13:647-656, Dec 2025. URL: https://doi.org/10.34883/pi.2025.13.4.011, doi:10.34883/pi.2025.13.4.011. This article has 0 citations.

13. (marakhonov2024ararecase pages 4-5): Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya, Tatyana Vasilyeva, Victoria Zabnenkova, Oxana Ryzhkova, Yulia Rodina, Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva, Taisiya Irbaieva, Alexander Koroteev, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, and Sergey Kutsev. A rare case of tp63-associated lymphopenia revealed by newborn screening using trec. International Journal of Molecular Sciences, 25:10844, Oct 2024. URL: https://doi.org/10.3390/ijms251910844, doi:10.3390/ijms251910844. This article has 4 citations.

14. (murari2025p63amaster pages 4-6): Lakshana Sruthi Sadu Murari, Sam Kunkel, Anala Shetty, Addison Bents, Aayush Bhandary, and Juan Carlos Rivera-Mulia. P63: a master regulator at the crossroads between development, senescence, aging, and cancer. Cells, 14:43, Jan 2025. URL: https://doi.org/10.3390/cells14010043, doi:10.3390/cells14010043. This article has 5 citations.

15. (vanderschelden2023heterozygoustp63pathogenic pages 1-2): Rachel K Vanderschelden, Marta Rodriguez-Escriba, Serena H. Chan, Andrea J. Berman, Aleksandar Rajkovic, and Svetlana A. Yatsenko. Heterozygous tp63 pathogenic variants in isolated primary ovarian insufficiency. Journal of Assisted Reproduction and Genetics, 40:2211-2218, Jul 2023. URL: https://doi.org/10.1007/s10815-023-02886-w, doi:10.1007/s10815-023-02886-w. This article has 6 citations and is from a peer-reviewed journal.

16. (zhuang2025molecularcharacterizationof pages 4-6): Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, and Chunnuan Chen. Molecular characterization of a rare tp63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-dlx signaling pathway. BMC Genomics, Feb 2025. URL: https://doi.org/10.1186/s12864-025-11297-3, doi:10.1186/s12864-025-11297-3. This article has 0 citations and is from a peer-reviewed journal.

17. (salois2023effectsoftp63 pages 4-6): Maddison N. Salois, Jessica A. Gugger, Saiphone Webb, Christina E. Sheldon, Shirley P. Parraga, G. Michael Lewitt, Dorothy K. Grange, Peter J. Koch, and Maranke I. Koster. Effects of tp63 mutations on keratinocyte adhesion and migration. Experimental Dermatology, 32:1575-1581, Jul 2023. URL: https://doi.org/10.1111/exd.14885, doi:10.1111/exd.14885. This article has 5 citations and is from a domain leading peer-reviewed journal.

18. (iorio2023…patientsaffected pages 14-14): E Di Iorio, F Bonelli, and R Bievel-Radulescu. … patients affected by p63-associated disorders: ectrodactyly-ectodermal dysplasia-clefting (eec) and ankyloblepharon-ectodermal defects-cleft lip palate (aec …. Unknown journal, 2023.

19. (marakhonov2024ararecase pages 1-2): Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya, Tatyana Vasilyeva, Victoria Zabnenkova, Oxana Ryzhkova, Yulia Rodina, Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva, Taisiya Irbaieva, Alexander Koroteev, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, and Sergey Kutsev. A rare case of tp63-associated lymphopenia revealed by newborn screening using trec. International Journal of Molecular Sciences, 25:10844, Oct 2024. URL: https://doi.org/10.3390/ijms251910844, doi:10.3390/ijms251910844. This article has 4 citations.

20. (marakhonov2024ararecase pages 10-10): Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya, Tatyana Vasilyeva, Victoria Zabnenkova, Oxana Ryzhkova, Yulia Rodina, Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva, Taisiya Irbaieva, Alexander Koroteev, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, and Sergey Kutsev. A rare case of tp63-associated lymphopenia revealed by newborn screening using trec. International Journal of Molecular Sciences, 25:10844, Oct 2024. URL: https://doi.org/10.3390/ijms251910844, doi:10.3390/ijms251910844. This article has 4 citations.

21. (cong2026p63inskin pages 16-19): Yujia Cong, Zhenglin He, Hanming Hao, Haoran Chen, Anqi Chen, Chunyi Li, Yue Hu, and Xianling Cong. P63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials. Cell Death Discovery, Mar 2026. URL: https://doi.org/10.1038/s41420-026-03060-8, doi:10.1038/s41420-026-03060-8. This article has 0 citations and is from a peer-reviewed journal.

22. (zhuang2025molecularcharacterizationof pages 6-8): Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, and Chunnuan Chen. Molecular characterization of a rare tp63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-dlx signaling pathway. BMC Genomics, Feb 2025. URL: https://doi.org/10.1186/s12864-025-11297-3, doi:10.1186/s12864-025-11297-3. This article has 0 citations and is from a peer-reviewed journal.

23. (salois2023effectsoftp63 pages 7-11): Maddison N. Salois, Jessica A. Gugger, Saiphone Webb, Christina E. Sheldon, Shirley P. Parraga, G. Michael Lewitt, Dorothy K. Grange, Peter J. Koch, and Maranke I. Koster. Effects of tp63 mutations on keratinocyte adhesion and migration. Experimental Dermatology, 32:1575-1581, Jul 2023. URL: https://doi.org/10.1111/exd.14885, doi:10.1111/exd.14885. This article has 5 citations and is from a domain leading peer-reviewed journal.

24. (salois2023effectsoftp63 media 83f76dc6): Maddison N. Salois, Jessica A. Gugger, Saiphone Webb, Christina E. Sheldon, Shirley P. Parraga, G. Michael Lewitt, Dorothy K. Grange, Peter J. Koch, and Maranke I. Koster. Effects of tp63 mutations on keratinocyte adhesion and migration. Experimental Dermatology, 32:1575-1581, Jul 2023. URL: https://doi.org/10.1111/exd.14885, doi:10.1111/exd.14885. This article has 5 citations and is from a domain leading peer-reviewed journal.

25. (salois2023effectsoftp63 media e89fc6fc): Maddison N. Salois, Jessica A. Gugger, Saiphone Webb, Christina E. Sheldon, Shirley P. Parraga, G. Michael Lewitt, Dorothy K. Grange, Peter J. Koch, and Maranke I. Koster. Effects of tp63 mutations on keratinocyte adhesion and migration. Experimental Dermatology, 32:1575-1581, Jul 2023. URL: https://doi.org/10.1111/exd.14885, doi:10.1111/exd.14885. This article has 5 citations and is from a domain leading peer-reviewed journal.

26. (huang2023tp63gainoffunctionmutations pages 3-5): Chengzi Huang, Simin Zhao, Yajuan Yang, T. Guo, Hanni Ke, Xinling Mi, Yingying Qin, Zi-Jiang Chen, and Shidou Zhao. Tp63 gain-of-function mutations cause premature ovarian insufficiency by inducing oocyte apoptosis. The Journal of Clinical Investigation, Mar 2023. URL: https://doi.org/10.1172/jci162315, doi:10.1172/jci162315. This article has 38 citations.

27. (iorio2023…byp63associated pages 9-11): E Di Iorio, F Bonelli, and R Bievel-Radulescu. … by p63-associated disorders: ectrodactyly-ectodermal dysplasia-clefting (eec) and ankyloblepharon-ectodermal defects-cleft lip palate (aec) syndromes. Unknown journal, 2023.

28. (huang2023tp63gainoffunctionmutations pages 10-11): Chengzi Huang, Simin Zhao, Yajuan Yang, T. Guo, Hanni Ke, Xinling Mi, Yingying Qin, Zi-Jiang Chen, and Shidou Zhao. Tp63 gain-of-function mutations cause premature ovarian insufficiency by inducing oocyte apoptosis. The Journal of Clinical Investigation, Mar 2023. URL: https://doi.org/10.1172/jci162315, doi:10.1172/jci162315. This article has 38 citations.

29. (salois2023effectsoftp63 pages 1-3): Maddison N. Salois, Jessica A. Gugger, Saiphone Webb, Christina E. Sheldon, Shirley P. Parraga, G. Michael Lewitt, Dorothy K. Grange, Peter J. Koch, and Maranke I. Koster. Effects of tp63 mutations on keratinocyte adhesion and migration. Experimental Dermatology, 32:1575-1581, Jul 2023. URL: https://doi.org/10.1111/exd.14885, doi:10.1111/exd.14885. This article has 5 citations and is from a domain leading peer-reviewed journal.

30. (murari2025p63amaster pages 2-4): Lakshana Sruthi Sadu Murari, Sam Kunkel, Anala Shetty, Addison Bents, Aayush Bhandary, and Juan Carlos Rivera-Mulia. P63: a master regulator at the crossroads between development, senescence, aging, and cancer. Cells, 14:43, Jan 2025. URL: https://doi.org/10.3390/cells14010043, doi:10.3390/cells14010043. This article has 5 citations.

31. (huang2023tp63gainoffunctionmutations pages 5-7): Chengzi Huang, Simin Zhao, Yajuan Yang, T. Guo, Hanni Ke, Xinling Mi, Yingying Qin, Zi-Jiang Chen, and Shidou Zhao. Tp63 gain-of-function mutations cause premature ovarian insufficiency by inducing oocyte apoptosis. The Journal of Clinical Investigation, Mar 2023. URL: https://doi.org/10.1172/jci162315, doi:10.1172/jci162315. This article has 38 citations.