Ulnar‑Mammary Syndrome (UMS) — Disease Characteristics Research Report

Target disease

• Disease name: Ulnar‑Mammary Syndrome (UMS)
• Category: Mendelian developmental disorder
• MONDO ID: Not available in retrieved evidence corpus (not present in accessed full text)

Executive overview

Ulnar‑mammary syndrome (UMS) is a rare, pleiotropic, typically autosomal dominant developmental disorder primarily affecting posterior (ulnar‑ray) limb development and mammary/apocrine gland development, with frequent genital/endocrine involvement and variable expressivity across and within families. UMS is caused by heterozygous deleterious variants in TBX3, a T‑box transcription factor critical for patterning and organogenesis, with haploinsufficiency widely supported as the predominant mechanism (galazzi2018hypogonadotropichypogonadismand pages 1-2, tung2022tbx3andefna4 pages 1-2, bottillo2024aninheritedtbx3 pages 1-2).

1. Disease information

1.1 Definition and current understanding

UMS is consistently described as a developmental malformation syndrome involving limb, mammary/apocrine, dentition, and genital development, with additional endocrine and occasional cardiac/other congenital anomalies reported (galazzi2018hypogonadotropichypogonadismand pages 1-2, tung2022tbx3andefna4 pages 1-2, bottillo2024aninheritedtbx3 pages 1-2).

1.2 Key identifiers

• OMIM (disease): 181450 (UMS) (zhang2023literaturereviewreport pages 1-3, tung2022tbx3andefna4 pages 1-2)
• OMIM (gene): TBX3 *601621 (tung2022tbx3andefna4 pages 1-2)
• Orphanet: referenced as an authoritative rare disease resource and as the basis for the commonly cited count of published cases; disease page URL is cited directly in a 2022 peer‑reviewed report: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?Ing=EN&data_id=2808&Disease_Search_diseaseGroup=Ulnar-mammary-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group/group%20of%20diseases=Ulnar-mammary-syndrome&title=Ulnar-mammary%20syndrome&search=Disease_Search_Simple (accessed 31 Aug 2022 as reported) (tung2022tbx3andefna4 pages 1-2)
• ICD‑10/ICD‑11, MeSH, MONDO: Not present in retrieved full‑text evidence; therefore not asserted here.

1.3 Synonyms / alternative names

• Schinzel syndrome / Shinzel syndrome (noted as an alternative name in recent literature) (bottillo2024aninheritedtbx3 pages 1-2)

1.4 Evidence source type

The information summarized here is derived from aggregated disease‑level resources embedded in peer‑reviewed articles (e.g., Orphanet‑based counts) and individual patient/family reports and case series/reviews (e.g., Linden 2009; Galazzi 2018; Zhang 2023; Bottillo 2024; Tung 2022) (zhang2023literaturereviewreport pages 1-3, galazzi2018hypogonadotropichypogonadismand pages 1-2, linden2009ulnarmammarysyndrome pages 1-2, tung2022tbx3andefna4 pages 1-2, bottillo2024aninheritedtbx3 pages 1-2).

2. Etiology

2.1 Disease causal factors

Genetic: Heterozygous deleterious variants in TBX3 cause UMS (galazzi2018hypogonadotropichypogonadismand pages 1-2, tung2022tbx3andefna4 pages 1-2, bamshad1999thespectrumof pages 1-2).

Mechanistic framing (current): UMS is generally framed as a dosage‑sensitive developmental transcription‑factor disorder, with haploinsufficiency commonly invoked; however, experimental work in mice supports that not all TBX3 alterations behave as simple nulls (e.g., truncated/mislocalized proteins may contribute) (frank2013mousetbx3mutants pages 1-2, tung2022tbx3andefna4 pages 1-2).

2.2 Risk factors

For a Mendelian disorder, the main risk factor is inheritance of a pathogenic TBX3 variant. Familial transmission and intrafamilial variability are repeatedly documented (tung2022tbx3andefna4 pages 2-4, linden2009ulnarmammarysyndrome pages 1-2).

2.3 Protective factors

Not established in the retrieved evidence.

2.4 Gene–environment interactions

Not established in the retrieved evidence.

3. Phenotypes

3.1 Core phenotype domains (with suggested HPO mappings)

UMS exhibits substantial variable expressivity and sometimes subtle signs in carriers (linden2009ulnarmammarysyndrome pages 1-2, tung2022tbx3andefna4 pages 1-2).

A) Limb anomalies (posterior/ulnar ray)

• Typical findings: posterior upper limb deficiencies ranging from mild fifth‑finger anomalies to severe forearm/hand reduction; may be asymmetric (galazzi2018hypogonadotropichypogonadismand pages 1-2, tung2022tbx3andefna4 pages 1-2).
• Example patient detail (2023): absent left ulna and absent 4th/5th metacarpals/phalanges (zhang2023literaturereviewreport pages 1-3).
• Suggested HPO terms:
• Ulnar hypoplasia/aplasia (e.g., HP:0003048 ulnar hypoplasia; confirm exact HPO ID during curation)
• Postaxial polydactyly (HP:0100259)
• Fifth finger abnormalities (clinodactyly/camptodactyly; e.g., HP:0004209, HP:0001239)

B) Mammary/nipple and apocrine features

• Findings: nipple hypoplasia/inversion/retraction; apocrine hypoplasia manifested as reduced sweating and absent/reduced axillary hair (galazzi2018hypogonadotropichypogonadismand pages 1-2, zhang2023literaturereviewreport pages 1-3).
• Suggested HPO terms:
• Inverted/retracted nipples (e.g., HP:0002562 inverted nipples)
• Hypohidrosis (HP:0000966)
• Sparse axillary hair (e.g., HP:0002230 sparse body hair)

C) Genital / reproductive anomalies (often male)

• Findings: micropenis, cryptorchidism, delayed puberty; hypogonadotropic hypogonadism may be congenital and persistent (galazzi2018hypogonadotropichypogonadismand pages 1-2, zhang2023literaturereviewreport pages 1-3).
• Suggested HPO terms:
• Micropenis (HP:0000054)
• Cryptorchidism (HP:0000028)
• Delayed puberty (HP:0000823)
• Hypogonadotropic hypogonadism (HP:0000044)

D) Endocrine / pituitary and growth

• Pituitary hypoplasia and nIHH: documented as recurrent features in an endocrine‑focused study (galazzi2018hypogonadotropichypogonadismand pages 1-2, galazzi2018hypogonadotropichypogonadismand pages 5-6).
• Short stature / growth hormone deficiency: reported in multiple cases, with pituitary structural abnormalities; one report explicitly proposes routine evaluation (linden2009ulnarmammarysyndrome pages 1-2, zhang2023literaturereviewreport pages 5-6).
• Suggested HPO terms:
• Short stature (HP:0004322)
• Growth hormone deficiency (HP:0000824)
• Pituitary hypoplasia (HP:0000873)

E) Dental anomalies / midline anomalies

• Midline defects including “nose, teeth and tongue anomalies” are noted in endocrine‑focused familial cases (galazzi2018hypogonadotropichypogonadismand pages 1-2).
• Suggested HPO terms:
• Abnormal dentition (HP:0006482)
• Midline defect (use specific terms depending on phenotype)

3.2 Phenotype frequencies/statistics (from recent analyses)

• Published case count: approximately 128 cases reported worldwide (recently reiterated) (zhang2023literaturereviewreport pages 1-3, tung2022tbx3andefna4 pages 1-2).
• Delayed puberty in males: 79% (combined analysis in an endocrine‑focused synthesis) (galazzi2018hypogonadotropichypogonadismand pages 1-2).
• Other signs of hypogonadism in males: 37% (same combined analysis) (galazzi2018hypogonadotropichypogonadismand pages 1-2).
• Short stature: reported in about ~16% of cases in a 2023 literature synthesis (zhang2023literaturereviewreport pages 5-6).

3.3 Quality of life impact

Direct quantitative QoL instruments were not reported in the retrieved evidence. However, real‑world impacts are implied by the need for orthopedic interventions for limb malformations, endocrine therapy for pubertal induction/fertility and growth, and cardiac surveillance/management when defects occur (linden2009ulnarmammarysyndrome pages 1-2, galazzi2018hypogonadotropichypogonadismand pages 5-6).

4. Genetic / molecular information

4.1 Causal gene

• TBX3 encodes a T‑box transcription factor (DNA‑binding domain) important for embryonic development and organogenesis; heterozygous deleterious variants cause UMS (galazzi2018hypogonadotropichypogonadismand pages 1-2, bamshad1999thespectrumof pages 1-2).

4.2 Pathogenic variant classes and examples

UMS‑associated variants include truncating (frameshift/nonsense), splice‑site, and missense variants, including variants downstream of the T‑box domain; missense variants in the T‑box domain are highlighted as functionally impactful in a 2024 functional study (bottillo2024aninheritedtbx3 pages 1-2, bamshad1999thespectrumof pages 1-2).

Representative recent variants: - Frameshift (pathogenic): TBX3 c.1121_1124delAGAG (p.Glu374fs) (WES + Sanger; ACMG pathogenic) (zhang2023literaturereviewreport pages 1-3). - Missense (likely pathogenic, functional follow‑up): TBX3 c.400C>T (p.P134S), prenatally ascertained; functional characterization performed using a humanized Drosophila model (bottillo2024aninheritedtbx3 pages 1-2, bottillo2024aninheritedtbx3 pages 2-4). - Splice‑site (likely pathogenic): TBX3 c.804+1G>A, identified by NGS; marked intrafamilial variability reported (tung2022tbx3andefna4 pages 1-2, tung2022tbx3andefna4 pages 2-4).

Population frequency statements: - The p.P134S variant is reported as absent from gnomAD in the 2024 report (bottillo2024aninheritedtbx3 pages 2-4).

4.3 Functional consequences

• Haploinsufficiency is widely discussed as the prevailing mechanism (galazzi2018hypogonadotropichypogonadismand pages 1-2, bottillo2024aninheritedtbx3 pages 1-2).
• Experimental mouse genetics show that some engineered “null” alleles can generate truncated/mislocalized TBX3 proteins and yield phenotypes different from a true null allele, supporting that not all TBX3 variants are functionally equivalent (frank2013mousetbx3mutants pages 1-2).

4.4 Modifier genes / epigenetics / chromosomal abnormalities

• Modifier genes: not established in the retrieved evidence; variable expressivity is emphasized (bottillo2024aninheritedtbx3 pages 1-2, tung2022tbx3andefna4 pages 1-2).
• Epigenetic information: not directly described for UMS in retrieved evidence.
• Chromosomal abnormalities: not systematically reviewed in the retrieved evidence corpus; however, TBX3 can be interrogated by methods beyond sequencing (e.g., genomic testing strategies discussed for broader diagnostic workups) (tung2022tbx3andefna4 pages 1-2).

5. Environmental information

UMS is not presented as environmentally caused. No consistent environmental contributors were identified in the retrieved evidence.

6. Mechanism / pathophysiology

UMS is best understood as a developmental gene regulatory network disorder due to reduced TBX3 function during embryogenesis, disrupting patterning and epithelial–mesenchymal interactions in multiple organ systems.

6.1 Limb patterning (2024 mechanistic advance)

A 2024 mouse developmental genomics study places TBX3 directly in early limb‑bud anteroposterior patterning: - TBX3 is required to establish the posterior boundary of anterior genes by repression that excludes factors such as Gli3, Alx4, Hand1 and Irx3/5 from posterior limb‑bud mesenchyme, thereby delineating a posterior territory competent to establish the SHH organizer (soussi2024tbx3isessential pages 1-2). - HAND2 cooperates with TBX3 to upregulate posterior identity targets and is required for SHH activation (soussi2024tbx3isessential pages 1-2).

Suggested GO biological process terms (examples): limb development; anterior/posterior pattern specification; regulation of transcription by RNA polymerase II. Suggested cell types (CL): limb bud mesenchymal cell (map to appropriate CL term during curation).

6.2 Retinoic acid signaling as an upstream regulator of TBX3 in limb development

A mechanistic cell/developmental biology study demonstrates that Tbx3 is a direct target of retinoic acid signaling: - “retinoic acid (RA) activates endogenous TBX3 expression… mediated by an RA–receptor complex directly binding and activating the TBX3 promoter” with evidence for relevance in mouse embryonic limb development (ballim2012theulnarmammarysyndrome pages 1-2).

Pathway suggestions: retinoic acid signaling; transcriptional regulation.

6.3 Mammary/apocrine development and dosage sensitivity

Mouse developmental work indicates TBX3 dosage sensitivity in mammary development: - Tbx3 is “essential for induction of the mammary placodes” and shows a haploinsufficiency effect on maintenance of mammary placodes and ductal branching; genetic interaction with Tbx2 is described, with effects not clearly mediated by p19Arf/p53 in that context (jerome‐majewska2005tbx3theulnar‐mammary pages 1-2).

6.4 Endocrine/pituitary mechanism (clinical inference)

Endocrine case series data show that congenital normosmic hypogonadotropic hypogonadism (nIHH) can be associated with pituitary hypoplasia in UMS and can persist into adulthood, supporting TBX3 involvement in hypothalamic–pituitary development/function (galazzi2018hypogonadotropichypogonadismand pages 1-2).

7. Anatomical structures affected

7.1 Organ and system level

• Musculoskeletal/limb: posterior upper limb/ulnar ray; digits; forearm bones (zhang2023literaturereviewreport pages 1-3, galazzi2018hypogonadotropichypogonadismand pages 1-2).
• Integumentary/apocrine: axillary hair and sweat glands (apocrine involvement inferred clinically by reduced perspiration) (galazzi2018hypogonadotropichypogonadismand pages 1-2).
• Breast/nipple: nipple/breast development and potentially lactation (galazzi2018hypogonadotropichypogonadismand pages 1-2).
• Reproductive system: external male genitalia and testes; pubertal development (galazzi2018hypogonadotropichypogonadismand pages 1-2).
• Endocrine (pituitary): pituitary size/structure and hypothalamic–pituitary axis function (galazzi2018hypogonadotropichypogonadismand pages 1-2, linden2009ulnarmammarysyndrome pages 1-2).
• Cardiac (subset): congenital heart defect and conduction abnormalities are reported; a clinical report recommends screening (linden2009ulnarmammarysyndrome pages 1-2).

7.2 Suggested UBERON mappings (examples)

• Upper limb (UBERON:0002101)
• Mammary gland (UBERON:0001911)
• Pituitary gland (UBERON:0000007)
• Testis (UBERON:0000473)

8. Temporal development

• Onset: congenital (limb, nipple/apocrine anomalies present from birth), with endocrine manifestations often recognized in childhood/adolescence via growth failure or delayed puberty (zhang2023literaturereviewreport pages 1-3, galazzi2018hypogonadotropichypogonadismand pages 1-2).
• Course: structural anomalies are lifelong; endocrine deficiencies may require long‑term management and can persist into adulthood (nIHH persistence reported) (galazzi2018hypogonadotropichypogonadismand pages 1-2).

9. Inheritance and population

9.1 Inheritance

• Autosomal dominant inheritance is consistently stated (zhang2023literaturereviewreport pages 1-3, tung2022tbx3andefna4 pages 1-2).
• Variable expressivity is emphasized (linden2009ulnarmammarysyndrome pages 1-2, tung2022tbx3andefna4 pages 1-2).
• Incomplete penetrance is stated in a 2023 report (zhang2023literaturereviewreport pages 3-4).

9.2 Epidemiology

• UMS is extremely rare; a commonly repeated literature‑based estimate is ~128 published cases worldwide (zhang2023literaturereviewreport pages 1-3, tung2022tbx3andefna4 pages 1-2). Prevalence/incidence rates were not provided in retrieved full text.

10. Diagnostics

10.1 Clinical suspicion

Clues supporting diagnosis include posterior limb defects (ulnar ray), nipple/apocrine anomalies (inverted nipples, reduced sweating, absent axillary hair), and genital/endocrine findings (micropenis, cryptorchidism, delayed puberty), with high phenotypic variability (galazzi2018hypogonadotropichypogonadismand pages 1-2, zhang2023literaturereviewreport pages 1-3).

10.2 Genetic testing (real‑world implementations)

Documented approaches include: - Whole‑exome sequencing (WES) with Sanger confirmation and ACMG classification (example: pathogenic frameshift) (zhang2023literaturereviewreport pages 1-3). - Targeted NGS panels (example: CLIA panel used in a UMS/craniosynostosis context; also endocrine gene panels including TBX3) (tung2022tbx3andefna4 pages 2-4, galazzi2018hypogonadotropichypogonadismand pages 1-2). - Whole‑genome sequencing (WGS) as a follow‑up in complex/overlapping phenotypes (tung2022tbx3andefna4 pages 2-4).

10.3 Endocrine and imaging workup

• The endocrine‑focused paper emphasizes that UMS should be suspected in patients with delayed puberty and midline defects including pituitary hypoplasia, even without obvious limb malformations, and that TBX3 should be included in candidate gene lists for congenital nIHH (galazzi2018hypogonadotropichypogonadismand pages 1-2).
• A clinical report suggests offering brain imaging, growth hormone testing, and cardiac arrhythmia screening because these findings may be under‑ascertained (linden2009ulnarmammarysyndrome pages 1-2).

10.4 Differential diagnosis

Not systematically enumerated in the retrieved evidence; however, overlap with other “heart–hand” and limb malformation syndromes is implied by the need for careful genetic workup and variable presentations (tung2022tbx3andefna4 pages 1-2).

11. Outcome / prognosis

UMS outcomes are driven by the severity of congenital malformations and endocrine/cardiac complications. No disease‑specific survival statistics were identified in retrieved evidence. Severe cardiac conduction disease can be clinically significant when present, supporting surveillance (linden2009ulnarmammarysyndrome pages 1-2).

12. Treatment

No disease‑modifying molecular therapy is described in retrieved evidence; management is supportive and complication‑directed.

12.1 Endocrine management (documented real‑world practice)

• Growth hormone replacement was instituted for growth hormone deficiency with pituitary abnormalities (clinical report) (linden2009ulnarmammarysyndrome pages 1-2).
• Management regimens for hypogonadotropic hypogonadism/delayed puberty include testosterone for pubertal induction and gonadotropin‑based regimens (FSH priming and hCG) described as applied in UMS patients with nIHH (galazzi2018hypogonadotropichypogonadismand pages 2-3, galazzi2018hypogonadotropichypogonadismand pages 5-6).

12.2 Surgical/interventional

• Cryptorchidism may be treated with orchidopexy (clinical report) (linden2009ulnarmammarysyndrome pages 1-2).
• Orthopedic/rehabilitative care is implied for limb malformations; specific protocols are not detailed in retrieved evidence.

12.3 MAXO suggestions (examples)

• Growth hormone therapy (MAXO term to be assigned during ontology curation)
• Testosterone replacement / pubertal induction
• Orchidopexy
• Genetic counseling

13. Prevention

Primary prevention is not applicable for an inherited dominant developmental disorder, but reproductive and familial risk reduction approaches apply: - Genetic counseling is indicated given autosomal dominant inheritance and intrafamilial variability (tung2022tbx3andefna4 pages 1-2, linden2009ulnarmammarysyndrome pages 1-2). - Prenatal diagnosis can occur when a familial variant is known; a 2024 report describes prenatal ascertainment and subsequent family re‑evaluation (bottillo2024aninheritedtbx3 pages 1-2).

14. Other species / natural disease

No naturally occurring veterinary syndrome directly analogous to human UMS was identified in the retrieved evidence. However, TBX3 has conserved roles across species.

15. Model organisms

15.1 Drosophila (2024)

A 2024 study developed a humanized Drosophila model expressing TBX3 variants (including p.P134S) to assess developmental consequences and variant functional impact; the work argues this model can dissect TBX3‑dependent developmental pathways relevant to UMS (bottillo2024aninheritedtbx3 pages 1-2, bottillo2024aninheritedtbx3 pages 2-4).

15.2 Mouse developmental models

Mechanistic and phenotypic mouse evidence underpins UMS understanding: - RA regulation of Tbx3 in limb development (ballim2012theulnarmammarysyndrome pages 1-2). - Early limb‑bud patterning role of Tbx3 (2024 ChIP‑seq and expression studies) (soussi2024tbx3isessential pages 1-2). - Mammary placode induction/maintenance and branching morphogenesis dosage sensitivity (jerome‐majewska2005tbx3theulnar‐mammary pages 1-2).

Recent developments (emphasis 2023–2024)

1. 2023 clinical genetics expansion: a novel pathogenic TBX3 frameshift (c.1121_1124delAGAG; p.Glu374fs) was reported, with detailed endocrine and pituitary imaging phenotyping and reiteration of rarity (~128 cases) (zhang2023literaturereviewreport pages 1-3).
2. 2024 functional variant interpretation: prenatal case with a novel TBX3 missense (p.P134S) and functional characterization using a humanized Drosophila model, alongside an updated constitutional variant spectrum emphasizing the importance of the T‑box domain for missense pathogenicity (bottillo2024aninheritedtbx3 pages 1-2, bottillo2024aninheritedtbx3 pages 2-4).
3. 2024 mechanistic limb‑bud genomics: TBX3 positioned as a key repressor establishing anterior gene boundaries in posterior mesenchyme and cooperating with HAND2 to promote posterior identity and SHH organizer formation (soussi2024tbx3isessential pages 1-2).

Direct quotes (for evidence traceability)

• Galazzi et al. 2018 (abstract): “The combined analysis of these findings and of the previous UMS reports showed delayed puberty and other signs of hypogonadism in 79 and 37% of UMS males, respectively.” (galazzi2018hypogonadotropichypogonadismand pages 1-2)
• Zhang et al. 2023 (background): “To date, approximately 128 cases have been reported worldwide, and only 2 cases have been reported in China (including this case).” (zhang2023literaturereviewreport pages 1-3)
• Ballim et al. 2012 (abstract): “retinoic acid (RA) activates endogenous TBX3 expression, which is mediated by an RA–receptor complex directly binding and activating the TBX3 promoter…” (ballim2012theulnarmammarysyndrome pages 1-2)

Summary artifact

Key identifiers, variant examples, and phenotype statistics are summarized here:

Table: This table compacts the key disease identifiers, causal gene/mechanism, representative recent TBX3 variants, and the main phenotype statistics reported for ulnar-mammary syndrome. It is useful as a quick reference for knowledge-base curation and report drafting.

Key limitations of this report

• PMIDs were not available in the retrieved full‑text snippets; therefore this report cites DOIs/URLs and publication dates from the accessed articles.
• MONDO/MeSH/ICD codes, prevalence/incidence estimates, and population allele frequency tables were not present in the retrieved corpus; these should be supplemented by direct queries to MONDO, MeSH, ICD, ClinVar, and gnomAD in a future update.

References

1. (galazzi2018hypogonadotropichypogonadismand pages 1-2): Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, and Maria Teresa Bonati. Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in ulnar-mammary syndrome. Endocrine Connections, 7:1432-1441, Dec 2018. URL: https://doi.org/10.1530/ec-18-0486, doi:10.1530/ec-18-0486. This article has 15 citations and is from a peer-reviewed journal.

2. (tung2022tbx3andefna4 pages 1-2): Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Cristina M. Justice, Anthony Musolf, Simeon A. Boyadijev, Paul A. Romitti, Benjamin Darbro, and Hatem El-Shanti. Tbx3 and efna4 variant in a family with ulnar-mammary syndrome and sagittal craniosynostosis. Genes, 13:1649, Sep 2022. URL: https://doi.org/10.3390/genes13091649, doi:10.3390/genes13091649. This article has 5 citations.

3. (bottillo2024aninheritedtbx3 pages 1-2): Irene Bottillo, Andrea D'Alessandro, Maria Pia Ciccone, Gianluca Cestra, Gianluca Di Giacomo, Evelina Silvestri, Marco Castori, Francesco Brancati, Andrea Lenzi, Alessandro Paiardini, Silvia Majore, Giovanni Cenci, and Paola Grammatico. An inherited tbx3 alteration in a prenatal case of ulnar‐mammary syndrome: clinical assessment and functional characterization in drosophila melanogaster. Journal of Cellular Physiology, Sep 2024. URL: https://doi.org/10.1002/jcp.31440, doi:10.1002/jcp.31440. This article has 3 citations and is from a peer-reviewed journal.

4. (zhang2023literaturereviewreport pages 1-3): Xiwen Zhang, Lifen Chen, Lin Li, Jingjing An, Qinyu He, Xuelei Zhang, Wenli Lu, Yuan Xiao, and Zhiya Dong. Literature review, report, and analysis of genotype and clinical phenotype of a rare case of ulnar-mammary syndrome. Frontiers in Pediatrics, Mar 2023. URL: https://doi.org/10.3389/fped.2023.1052931, doi:10.3389/fped.2023.1052931. This article has 6 citations.

5. (linden2009ulnarmammarysyndrome pages 1-2): Helen Linden, Rosy Williams, Janet King, Edward Blair, and Usha Kini. Ulnar mammary syndrome and tbx3: expanding the phenotype. American Journal of Medical Genetics Part A, 149A:2809-2812, Dec 2009. URL: https://doi.org/10.1002/ajmg.a.33096, doi:10.1002/ajmg.a.33096. This article has 87 citations.

6. (bamshad1999thespectrumof pages 1-2): M. Bamshad, M. Bamshad, Trung Le, W. Watkins, Missy Dixon, Bridget E. Kramer, Amy D. Roeder, John C. Carey, S. Root, A. Schinzel, L. V. Maldergem, R. Gardner, R. Lin, Christine E. Seidman, J. G. Seidman, R. Wallerstein, Ellen Moran, R. Sutphen, Christine E. Campbell, and L. Jorde. The spectrum of mutations in tbx3: genotype/phenotype relationship in ulnar-mammary syndrome. American journal of human genetics, 64 6:1550-62, Jun 1999. URL: https://doi.org/10.1086/302417, doi:10.1086/302417. This article has 234 citations and is from a highest quality peer-reviewed journal.

7. (frank2013mousetbx3mutants pages 1-2): Deborah U. Frank, Uchenna Emechebe, Kirk R. Thomas, and Anne M. Moon. Mouse tbx3 mutants suggest novel molecular mechanisms for ulnar-mammary syndrome. PLoS ONE, 8:e67841, Jul 2013. URL: https://doi.org/10.1371/journal.pone.0067841, doi:10.1371/journal.pone.0067841. This article has 56 citations and is from a peer-reviewed journal.

8. (tung2022tbx3andefna4 pages 2-4): Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Cristina M. Justice, Anthony Musolf, Simeon A. Boyadijev, Paul A. Romitti, Benjamin Darbro, and Hatem El-Shanti. Tbx3 and efna4 variant in a family with ulnar-mammary syndrome and sagittal craniosynostosis. Genes, 13:1649, Sep 2022. URL: https://doi.org/10.3390/genes13091649, doi:10.3390/genes13091649. This article has 5 citations.

9. (galazzi2018hypogonadotropichypogonadismand pages 5-6): Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, and Maria Teresa Bonati. Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in ulnar-mammary syndrome. Endocrine Connections, 7:1432-1441, Dec 2018. URL: https://doi.org/10.1530/ec-18-0486, doi:10.1530/ec-18-0486. This article has 15 citations and is from a peer-reviewed journal.

10. (zhang2023literaturereviewreport pages 5-6): Xiwen Zhang, Lifen Chen, Lin Li, Jingjing An, Qinyu He, Xuelei Zhang, Wenli Lu, Yuan Xiao, and Zhiya Dong. Literature review, report, and analysis of genotype and clinical phenotype of a rare case of ulnar-mammary syndrome. Frontiers in Pediatrics, Mar 2023. URL: https://doi.org/10.3389/fped.2023.1052931, doi:10.3389/fped.2023.1052931. This article has 6 citations.

11. (bottillo2024aninheritedtbx3 pages 2-4): Irene Bottillo, Andrea D'Alessandro, Maria Pia Ciccone, Gianluca Cestra, Gianluca Di Giacomo, Evelina Silvestri, Marco Castori, Francesco Brancati, Andrea Lenzi, Alessandro Paiardini, Silvia Majore, Giovanni Cenci, and Paola Grammatico. An inherited tbx3 alteration in a prenatal case of ulnar‐mammary syndrome: clinical assessment and functional characterization in drosophila melanogaster. Journal of Cellular Physiology, Sep 2024. URL: https://doi.org/10.1002/jcp.31440, doi:10.1002/jcp.31440. This article has 3 citations and is from a peer-reviewed journal.

12. (soussi2024tbx3isessential pages 1-2): Geoffrey Soussi, Ausra Girdziusaite, Shalu Jhanwar, Victorio Palacio, Marco Notaro, Rushikesh Sheth, Rolf Zeller, and Aimée Zuniga. Tbx3 is essential for establishment of the posterior boundary of anterior genes and upregulation of posterior genes together with hand2 during the onset of limb bud development. Development, Jun 2024. URL: https://doi.org/10.1242/dev.202722, doi:10.1242/dev.202722. This article has 7 citations and is from a domain leading peer-reviewed journal.

13. (ballim2012theulnarmammarysyndrome pages 1-2): Reyna Deeya Ballim, Cathy Mendelsohn, Virginia E. Papaioannou, and Sharon Prince. The ulnar-mammary syndrome gene, tbx3, is a direct target of the retinoic acid signaling pathway, which regulates its expression during mouse limb development. Molecular Biology of the Cell, 23:2362-2372, Jun 2012. URL: https://doi.org/10.1091/mbc.e11-09-0790, doi:10.1091/mbc.e11-09-0790. This article has 29 citations and is from a domain leading peer-reviewed journal.

14. (jerome‐majewska2005tbx3theulnar‐mammary pages 1-2): Loydie A. Jerome‐Majewska, Gerard P. Jenkins, Elana Ernstoff, Frederique Zindy, Charles J. Sherr, and Virginia E. Papaioannou. Tbx3, the ulnar‐mammary syndrome gene, and tbx2 interact in mammary gland development through a p19arf/p53‐independent pathway. Developmental Dynamics, 234:922-933, Dec 2005. URL: https://doi.org/10.1002/dvdy.20575, doi:10.1002/dvdy.20575. This article has 117 citations and is from a peer-reviewed journal.

15. (zhang2023literaturereviewreport pages 3-4): Xiwen Zhang, Lifen Chen, Lin Li, Jingjing An, Qinyu He, Xuelei Zhang, Wenli Lu, Yuan Xiao, and Zhiya Dong. Literature review, report, and analysis of genotype and clinical phenotype of a rare case of ulnar-mammary syndrome. Frontiers in Pediatrics, Mar 2023. URL: https://doi.org/10.3389/fped.2023.1052931, doi:10.3389/fped.2023.1052931. This article has 6 citations.

16. (galazzi2018hypogonadotropichypogonadismand pages 2-3): Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, and Maria Teresa Bonati. Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in ulnar-mammary syndrome. Endocrine Connections, 7:1432-1441, Dec 2018. URL: https://doi.org/10.1530/ec-18-0486, doi:10.1530/ec-18-0486. This article has 15 citations and is from a peer-reviewed journal.