Isolated Woolly Hair (non‑syndromic autosomal‑recessive woolly hair/hypotrichosis): Disease Characteristics Research Report

Target disease: Isolated Woolly Hair (typically discussed as isolated autosomal recessive woolly hair/hypotrichosis, ARWH/HT)
Category: Mendelian (primarily autosomal recessive) (xie2025diagnosisandtreatment pages 1-2, xie2025diagnosisandtreatment pages 2-4)

Executive summary (current understanding)

Isolated woolly hair is a rare congenital hair‑shaft disorder characterized by tightly curled “woolly” scalp hair with limited length, fragility, and often hypotrichosis, usually without extracutaneous features (xie2025diagnosisandtreatment pages 1-2, xie2025diagnosisandtreatment pages 2-4, xie2025autosomalrecessivewoolly pages 1-2). The best‑supported molecular model is disruption of a lipid‑mediator pathway in the hair follicle inner root sheath (IRS): LIPH (PA‑PLA1α) generates 2‑acyl lysophosphatidic acid (LPA), which signals through LPAR6/P2RY5 (LPA6); C3ORF52 supports this signaling module; downstream effects include altered IRS development and keratin programs and EGFR activation (shimomura2025molecularbasisof pages 2-4, xie2025autosomalrecessivewoolly pages 2-5, ramot2015thetwistingtale pages 1-2). No disease‑modifying therapy is established; evidence for interventions is limited to case reports and small series (xie2025autosomalrecessivewoolly pages 2-5, xie2025diagnosisandtreatment pages 1-2).

Table: This table condenses the main clinical, genetic, mechanistic, diagnostic, and population-level facts for isolated woolly hair/autosomal recessive woolly hair-hypotrichosis. It distinguishes classic recessive forms from related but non-classic entities such as dominant ADAM17-associated woolly hair/hypotrichosis.

1. Disease information

1.1 What is the disease?

Definition/overview. Woolly hair (WH) is a hair‑shaft anomaly with tightly curled hair that typically grows only a few inches; in the isolated autosomal‑recessive form, the phenotype is present from birth/early infancy and may be accompanied by diffuse sparseness/hypotrichosis (minakawa2024casereportexploring pages 1-3, xie2025diagnosisandtreatment pages 2-4). A 2024 Japanese case report describes WH as “a hair shaft anomaly characterized by tightly curled hair that typically stops growing at a few inches” and attributes autosomal‑recessive cases to LPAR6, LIPH, or KRT25 (minakawa2024casereportexploring pages 1-3).

Evidence type. Most of the literature base is aggregated review synthesis plus individual case reports and family studies. For example, a 2025 review covering literature through Dec 2024 included “63 English and 22 Chinese articles (63 case reports, 7 reviews)” (xie2025diagnosisandtreatment pages 1-2).

1.2 Key identifiers

• OMIM: ARWH is cited with OMIM: 278150, and related entries are also cited as 604379 and 616760 in clinical genetics literature (minakawa2024casereportexploring pages 1-3).
• MONDO / Orphanet / ICD‑10/11 / MeSH: Not retrievable from the tool‑accessible sources in this run; therefore not asserted here.

1.3 Synonyms / alternative names

• Isolated autosomal recessive woolly hair/hypotrichosis (ARWH/HT) (xie2025diagnosisandtreatment pages 1-2, xie2025autosomalrecessivewoolly pages 1-2)
• Autosomal recessive woolly hair (ARWH) (minakawa2024casereportexploring pages 1-3, xie2025diagnosisandtreatment pages 2-4)
• Non‑syndromic woolly hair/hypotrichosis (xie2025autosomalrecessivewoolly pages 1-2)

1.4 Distinguishing isolated vs syndromic woolly hair

A key diagnostic concept is separating isolated ARWH from syndromic cardiocutaneous disorders (e.g., desmosomal gene disorders) where woolly hair co‑occurs with palmoplantar keratoderma and arrhythmogenic cardiomyopathy; in those syndromic contexts, cardiac evaluation is emphasized (ramot2015thetwistingtale pages 1-2).

2. Etiology

2.1 Disease causal factors

Primary cause: Germline pathogenic variants in hair‑follicle genes, most commonly within the LPA signaling pathway. * LIPH and LPAR6/P2RY5 are described as the main causes of non‑syndromic ARWH (xie2025autosomalrecessivewoolly pages 1-2). * Additional genes reported in isolated ARWH include KRT25 (ARWH3) and rare bi‑allelic loss‑of‑function in C3ORF52 (xie2025autosomalrecessivewoolly pages 2-5, shimomura2025molecularbasisof pages 2-4).

Abstract‑supported quote (recent, authoritative): * Shimomura (2025) summarizes that hereditary hair diseases include “non‑syndromic form of autosomal recessive woolly hair… caused by founder pathogenic variants in the lipase H (LIPH) gene” in Japan (shimomura2025molecularbasisof pages 2-4).

2.2 Risk factors

• Genetic risk factor: Consanguinity increases risk for autosomal‑recessive forms; multiple reports emphasize consanguineous families for LPAR6 variants (aisha2025molecularanalysisof pages 5-6, aisha2025molecularanalysisof pages 3-5).
• Population/founder effects: Strong founder effects are described for LIPH in Japan and recurrent variants in other regions (xie2025diagnosisandtreatment pages 1-2, shimomura2025molecularbasisof pages 2-4).

Environmental risk factors: Not established for isolated ARWH in retrieved sources.

2.3 Protective factors

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

2.4 Gene–environment interactions

Not reported in the retrieved sources.

3. Phenotypes (clinical features)

3.1 Core phenotype and characteristics

Typical phenotype (non‑syndromic ARWH): * Age of onset: birth or within the first 2 years (xie2025diagnosisandtreatment pages 1-2, xie2025autosomalrecessivewoolly pages 1-2). * Hair features: sparse, thin, tightly curled “woolly” scalp hair with slow growth and limited maximal length; pigmentation may be reduced; hair is often brittle and breaks easily (xie2025diagnosisandtreatment pages 2-4, xie2025autosomalrecessivewoolly pages 1-2). * Length limit statistic: growth often ceases at short length and is described as rarely exceeding 12 cm in a review (xie2025diagnosisandtreatment pages 1-2, xie2025diagnosisandtreatment pages 2-4). * Extra‑hair findings: eyebrows/eyelashes/nails/sweat glands often preserved in isolated forms (xie2025autosomalrecessivewoolly pages 2-5).

Representative recent case (2024): A 3‑year‑old Japanese girl had “scalp‑limited, short, tightly curled, sparse hair since birth”; trichoscopy showed undulation and uniformly thin hair; SEM showed rough cuticle and grooves; she carried homozygous LIPH c.736T>A (p.Cys246Ser) (minakawa2024casereportexploring pages 1-3).

3.2 Hair microscopy / trichoscopy / SEM phenotypes

Across a 2025 case report and review, microscopy and SEM/trichoscopy features include irregular bending, S‑shaped curves, longitudinal/transverse grooves, uneven twisting, and cuticle/cortex abnormalities, which support a primary hair‑shaft structural defect (xie2025autosomalrecessivewoolly pages 2-5, xie2025diagnosisandtreatment pages 2-4).

Visual evidence (SEM and segregation): Minakawa et al. provide figure panels showing segregation of LIPH c.736T>A (p.Cys246Ser) and SEM hair‑shaft abnormalities (rough/irregular cuticle; oval cross‑sections), as well as a 5‑case clinical summary (minakawa2024casereportexploring media a883f03b, minakawa2024casereportexploring media eb325025).

3.3 Suggested HPO terms (non‑exhaustive)

Based on retrieved descriptions: * Woolly hair (HP term suggestion: Woolly hair) (minakawa2024casereportexploring pages 1-3, xie2025diagnosisandtreatment pages 2-4) * Hypotrichosis (HP term suggestion: Hypotrichosis) (xie2025autosomalrecessivewoolly pages 1-2, xie2025diagnosisandtreatment pages 1-2) * Abnormal hair growth / Short hair (HP term suggestion: Short hair, Abnormality of hair growth) (xie2025diagnosisandtreatment pages 2-4) * Hair fragility / Hair breakage (HP term suggestion: Increased hair fragility) (xie2025autosomalrecessivewoolly pages 2-5, xie2025diagnosisandtreatment pages 2-4) * Abnormal hair shaft morphology (HP term suggestion: Abnormal hair shaft morphology) (xie2025diagnosisandtreatment pages 2-4, minakawa2024casereportexploring media a883f03b)

3.4 Quality‑of‑life impact

Direct validated QoL instrument data (SF‑36/EQ‑5D/PROMIS) were not found in retrieved sources. However, the literature frames isolated ARWH largely as a chronic cosmetic/psychosocial concern without systemic morbidity in isolated forms (xie2025diagnosisandtreatment pages 2-4, xie2025diagnosisandtreatment pages 1-2).

4. Genetic / molecular information

4.1 Causal genes (current consensus in retrieved sources)

• LIPH (ARWH2) (minakawa2024casereportexploring pages 1-3, xie2025autosomalrecessivewoolly pages 1-2)
• LPAR6 / P2RY5 (ARWH1) (xie2025autosomalrecessivewoolly pages 2-5, aisha2025molecularanalysisof pages 5-6)
• KRT25 (ARWH3) (xie2025autosomalrecessivewoolly pages 2-5, minakawa2024casereportexploring pages 1-3)
• C3ORF52 (rare; bi‑allelic loss‑of‑function reported) (shimomura2025molecularbasisof pages 2-4)

4.2 Pathogenic variants (examples; not comprehensive)

LIPH examples from recent reports: * c.736T>A (p.Cys246Ser)—homozygous in multiple Japanese cases (minakawa2024casereportexploring pages 1-3, minakawa2024casereportexploring media a883f03b). * c.742C>A (p.His248Asn)—reported as a Japanese founder allele (shimomura2025molecularbasisof pages 2-4). * c.1101del—novel frameshift in a 2025 case report (xie2025autosomalrecessivewoolly pages 1-2). * c.530T>G (p.Leu177Arg)—missense associated with near‑abolished secretion in an experimental secretion assay (zhang2025completedefectin pages 1-2, zhang2025completedefectin pages 2-4).

LPAR6 example from family study: * c.436G>A (p.Gly146Arg)—homozygous in two consanguineous Pakistani families; structural modeling suggests disruption of transmembrane helix/receptor conformation and signaling (aisha2025molecularanalysisof pages 3-5, aisha2025molecularanalysisof pages 5-6).

Variant classification: Some reports explicitly apply ACMG classification (e.g., 2025 LIPH compound heterozygotes classified as pathogenic) (xie2025autosomalrecessivewoolly pages 2-5).

4.3 Genotype–phenotype / population patterns (selected quantitative data)

• Japan: LIPH‑related ARWH is described as the most prevalent hereditary hair disease in Japan; two exon‑6 founder alleles (c.736T>A p.C246S and c.742C>A p.H248N) are highlighted, and the author estimates ~10,000 Japanese patients with LIPH‑related ARWH (shimomura2025molecularbasisof pages 2-4).
• China: In a 2025 review, 12/19 reported Chinese ARWH cases were linked to LIPH c.742C>A (xie2025diagnosisandtreatment pages 1-2).
• Clinic series statistic (Japan): One report describes 5 genetically confirmed LIPH cases (four homozygous p.Cys246Ser; one compound heterozygote p.Cys246Ser/p.Pro224Arg) (minakawa2024casereportexploring pages 1-3, minakawa2024casereportexploring media eb325025).

4.4 Modifier genes / epigenetics / chromosomal abnormalities

Not reported in the retrieved sources.

5. Environmental information

No non‑genetic causal or modifying exposures were identified in the retrieved sources.

6. Mechanism / pathophysiology

6.1 Core pathway and causal chain (human genetics + mechanistic inference)

Upstream trigger: bi‑allelic loss‑of‑function (or severe functional impairment) in LIPH, LPAR6/P2RY5, or C3ORF52 (shimomura2025molecularbasisof pages 2-4, xie2025autosomalrecessivewoolly pages 2-5).

Molecular chain: 1. LIPH (PA‑PLA1α) hydrolyzes phosphatidic acid to produce 2‑acyl LPA (shimomura2025molecularbasisof pages 2-4, ramot2015thetwistingtale pages 1-2). 2. LPAR6 (LPA6/P2RY5), a GPCR, binds 2‑acyl LPA and mediates signaling necessary for hair follicle morphogenesis and hair shaft differentiation (shimomura2025molecularbasisof pages 2-4, aisha2025molecularanalysisof pages 1-2). 3. C3ORF52 is membrane‑localized and supports PA‑PLA1α function; PA‑PLA1α/LPA6/C3ORF52 are co‑expressed in the inner root sheath (IRS) (shimomura2025molecularbasisof pages 2-4). 4. In mouse hair follicles, PA‑PLA1α/LPA/LPA6 signaling can activate EGFR and regulate IRS‑specific keratin expression; disruption impairs IRS development and hair growth, yielding woolly hair/hypotrichosis (shimomura2025molecularbasisof pages 2-4).

Variant mechanism examples (downstream functional consequences): * A 2025 case report describes a novel LIPH frameshift (c.1101del) predicted to truncate the catalytic domain and impair phosphatidic‑acid hydrolysis (loss of LPA production) (xie2025autosomalrecessivewoolly pages 2-5). * A 2025 functional study identifies a missense variant (c.530T>G; p.Leu177Arg) that “almost abolished the secretion” of the mutant protein in a secretion assay, implying complete functional loss of the secreted enzyme (zhang2025completedefectin pages 1-2). * LPAR6 p.Gly146Arg is modeled to destabilize a transmembrane helix and impair receptor conformation/signaling (aisha2025molecularanalysisof pages 5-6).

6.2 Cellular/tissue localization

• Anatomical compartment: hair follicle inner root sheath (IRS); co‑expression of LIPH/LPAR6/C3ORF52 is reported in IRS (shimomura2025molecularbasisof pages 2-4).
• A 2025 case report further specifies co‑expression of LIPH and P2Y5 in the IRS (Huxley layer and basement membrane layers) (xie2025autosomalrecessivewoolly pages 2-5).

6.3 Suggested ontology mappings

UBERON (anatomy): * Hair follicle; inner root sheath of hair follicle; scalp hair follicle (shimomura2025molecularbasisof pages 2-4, xie2025autosomalrecessivewoolly pages 2-5)

CL (cell types): * Inner root sheath epithelial cell (inferred from IRS localization statements) (shimomura2025molecularbasisof pages 2-4)

GO (biological process; examples): * Hair follicle development / hair growth (shimomura2025molecularbasisof pages 2-4, xie2025autosomalrecessivewoolly pages 2-5) * Lysophosphatidic acid biosynthetic process / LPA signaling (shimomura2025molecularbasisof pages 2-4, ramot2015thetwistingtale pages 1-2) * EGFR signaling pathway regulation in follicle context (shimomura2025molecularbasisof pages 2-4)

GO (molecular function; examples): * Phospholipase A1 activity (LIPH/PA‑PLA1α) (shimomura2025molecularbasisof pages 2-4, ramot2015thetwistingtale pages 1-2) * Lysophosphatidic acid receptor activity / GPCR activity (LPAR6) (shimomura2025molecularbasisof pages 2-4, aisha2025molecularanalysisof pages 1-2)

7. Anatomical structures affected

7.1 Organ/system level

• Primary: skin appendage / hair follicle (scalp hair most prominently) (minakawa2024casereportexploring pages 1-3, xie2025diagnosisandtreatment pages 2-4).

7.2 Tissue and cell level

• Hair follicle inner root sheath (IRS) is repeatedly implicated as a key tissue compartment for gene expression and mechanism (shimomura2025molecularbasisof pages 2-4, xie2025autosomalrecessivewoolly pages 2-5).

7.3 Subcellular level

• Membrane localization of receptors and some pathway proteins (LPAR6 GPCR; C3ORF52 membrane‑localized) and secreted/extracellular activity of PA‑PLA1α are described (shimomura2025molecularbasisof pages 2-4, zhang2025completedefectin pages 1-2).

8. Temporal development (natural history)

• Onset: congenital/infancy; hair present at birth or within first 2 years (xie2025diagnosisandtreatment pages 1-2, xie2025autosomalrecessivewoolly pages 1-2).
• Course: chronic; characterized by slow growth and limited maximal length (often stable trait). A 2024 report documents hair shaft ultrastructural abnormalities by SEM in a 3‑year‑old (minakawa2024casereportexploring pages 1-3).
• Progression: not consistently quantified; variable severity is suggested in the literature and may change with age (xie2025diagnosisandtreatment pages 1-2).

9. Inheritance and population

9.1 Inheritance patterns

• Predominantly autosomal recessive for isolated ARWH subtypes (LIPH, LPAR6, KRT25, C3ORF52) (xie2025diagnosisandtreatment pages 1-2, minakawa2024casereportexploring pages 1-3).

9.2 Epidemiology / distribution (available statistics)

Robust prevalence/incidence data are generally absent in the retrieved sources; however, several population signals are reported: * Japan: estimated ~10,000 LIPH‑related ARWH patients due to high‑frequency founder alleles (shimomura2025molecularbasisof pages 2-4). * Founder/recurrent alleles: Japanese predominance of LIPH c.736T>A and c.742C>A; Pakistan recurrent LIPH c.659_660del and recurrent LPAR6 variant in families; Russia exon 4 deletion; China 12/19 cases with LIPH c.742C>A (xie2025diagnosisandtreatment pages 1-2, shimomura2025molecularbasisof pages 2-4). * Global distribution of LPAR6: reported across many countries; missense variants are predominant and no single high‑frequency founder variant is established (xie2025diagnosisandtreatment pages 6-8).

9.3 Penetrance/expressivity

Quantitative penetrance estimates were not found. Expressivity is described as variable, especially in founder‑variant contexts (xie2025diagnosisandtreatment pages 1-2).

10. Diagnostics

10.1 Clinical evaluation

Diagnosis begins with recognition of the congenital woolly hair phenotype (tight curls, limited length, fragility, hypotrichosis) and assessment for syndromic signs (e.g., palmoplantar keratoderma, cardiomyopathy) (xie2025diagnosisandtreatment pages 2-4, ramot2015thetwistingtale pages 1-2).

10.2 Hair‑shaft testing modalities used in the literature

• Trichoscopy: wavy/curly shafts, broken hairs, clumping, yellow/black dots (xie2025autosomalrecessivewoolly pages 1-2).
• Light microscopy: irregular bending, S‑shaped curves (xie2025autosomalrecessivewoolly pages 2-5).
• Scanning electron microscopy (SEM): irregular/rough cuticle, grooves, raised/serrated cortex margins, oval cross‑sections (minakawa2024casereportexploring pages 1-3, minakawa2024casereportexploring media a883f03b).

10.3 Genetic testing strategy (real‑world implementation)

Recommended approach (evidence‑aligned): 1. If phenotype is isolated and AR inheritance suspected: perform targeted sequencing/panel or exome sequencing covering LIPH, LPAR6/P2RY5, KRT25, C3ORF52, followed by segregation testing in parents/siblings (xie2025diagnosisandtreatment pages 1-2, xie2025autosomalrecessivewoolly pages 2-5). 2. Use population‑informed interpretation: e.g., in Japanese patients prioritize known founder LIPH alleles (shimomura2025molecularbasisof pages 2-4).

10.4 Differential diagnosis (high priority)

• Syndromic woolly hair due to desmosomal gene disorders (e.g., cardiocutaneous syndromes) requires consideration because of potentially life‑threatening cardiac involvement; a genetics review emphasizes ECG/echocardiography and cardiology management in those syndromic forms (ramot2015thetwistingtale pages 1-2).
• Dominant woolly hair/hypotrichosis due to keratin genes (KRT71/KRT74) can resemble ARWH but differs in inheritance and mechanism (ramot2015thetwistingtale pages 1-2).

11. Outcome / prognosis

• Isolated ARWH: primarily affects hair appearance/texture and is generally not described as causing systemic morbidity in the isolated forms in the retrieved sources (xie2025diagnosisandtreatment pages 2-4, xie2025diagnosisandtreatment pages 1-2).
• Formal mortality or life expectancy data were not found.

12. Treatment

12.1 Current clinical management (evidence level: case reports / small series)

No definitive therapy is established (xie2025diagnosisandtreatment pages 1-2). Reported approaches include topical or systemic hair‑growth promotion and cosmetic/hair‑care measures.

Minoxidil: * A 2025 case report documented topical minoxidil tincture use with “no significant improvement” after ~3 months (xie2025autosomalrecessivewoolly pages 2-5). * A 2025 review states case reports exist describing improvement with topical minoxidil in congenital hypotrichosis linked to LIPH mutations, and mentions combinations (minoxidil + tretinoin + oral vitamin D analog) (xie2025diagnosisandtreatment pages 9-9). (Note: this review statement summarizes other reports not retrievable in full here.)

Other proposed/experimental approaches (limited evidence): * The review lists “gentamicin, regenerative approaches, and plant-derived compounds” as potential options but does not provide controlled efficacy data (xie2025diagnosisandtreatment pages 1-2). * Pathway‑guided therapeutic concept: targeting the LIPH/LPA/LPAR6 axis is proposed as a future direction (xie2025autosomalrecessivewoolly pages 2-5).

12.2 Clinical trials

No relevant interventional clinical trials were identified in this run.

12.3 MAXO term suggestions (supportive mapping)

• Topical minoxidil therapy (MAXO suggestion: topical pharmacotherapy) (xie2025autosomalrecessivewoolly pages 2-5)
• Genetic testing / exome sequencing (MAXO suggestion: genetic test) (xie2025autosomalrecessivewoolly pages 2-5)
• Genetic counseling (MAXO suggestion: genetic counseling)—supported conceptually by consanguinity/family studies and explicit counseling emphasis (aisha2025molecularanalysisof pages 5-6)

13. Prevention

Primary prevention is not established; however, genetic counseling and carrier‑aware family planning are implied prevention strategies in AR forms, particularly in high‑consanguinity settings (aisha2025molecularanalysisof pages 5-6).

14. Other species / natural disease

Cross‑species hair texture phenotypes support keratin gene roles in “woolly/curly” hair traits (see model organisms below) (ramot2015thetwistingtale pages 1-2).

15. Model organisms

15.1 Keratin‑related woolly hair models (not LIPH/LPAR6 ARWH per se)

• Krt71 knockout mouse (2023): CRISPR/Cas9 Krt71 KO mice showed curly/woolly coat phenotypes; a novel observation was complete hair shedding at 3–5 weeks, resembling nude mice but without immunodeficiency (zhang2023developmentofwoolly pages 1-2, zhang2023developmentofwoolly pages 2-4). These models support the concept that IRS keratin perturbation can generate woolly hair phenotypes.

15.2 Dominant woolly hair/hypotrichosis mechanistic model (non‑classic isolated ARWH)

• Adam17 p.D647N knock‑in mouse (2024): recapitulated hypotrichosis with woolly hair; mechanism involves TRIM47‑mediated ubiquitination/degradation of ADAM17 and downstream Notch pathway impairment with hair follicle stem cell exhaustion (wang2024adam17variantcauses pages 1-2, wang2024adam17variantcauses pages 2-4). This is mechanistically informative for hair follicle biology but represents a distinct dominant condition, not classic isolated ARWH.

Recent developments (prioritizing 2023–2024 where available)

• 2024 SEM + genotype correlation in Japan: A Frontiers in Medicine case report combined trichoscopy, SEM, and LIPH genotyping and summarized a 5‑case series, emphasizing genotype–phenotype correlation in a founder‑variant population (published May 2024; https://doi.org/10.3389/fmed.2024.1374222) (minakawa2024casereportexploring pages 1-3, minakawa2024casereportexploring media eb325025).
• 2023 engineered keratin model: A CRISPR Krt71 KO mouse model provides updated in vivo evidence for keratin‑dependent woolly hair/hairlessness phenotypes (published Jul 2023; https://doi.org/10.3390/cells12131781) (zhang2023developmentofwoolly pages 1-2).
• Expert synthesis on hereditary hair disease genetics: A 2025 review (accepted/published as “2023-0007-ir”) provides a high‑level expert perspective emphasizing LIPH founder variants and estimating disease burden in Japan (published Jul 2025; https://doi.org/10.2302/kjm.2023-0007-ir) (shimomura2025molecularbasisof pages 2-4).

Data gaps / limitations of this report

• Standard ontology identifiers beyond OMIM (MONDO/Orphanet/ICD/MeSH) were not accessible in the retrieved documents for this run, so they are not included.
• Many treatment claims in review literature refer to earlier case reports not directly retrievable here; thus, treatment efficacy statements should be interpreted as low‑certainty unless confirmed by primary reports.
• Robust prevalence/incidence, penetrance, and validated QoL data are not available in the retrieved sources.

References

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2. (xie2025diagnosisandtreatment pages 2-4): Ying Xie, Sha Luo, Yumei Yang, Xin Zou, Shuying Lv, Meijiao Du, Yonglong Xu, Xiaojuan Song, Changjie Qi, Nuo Li, and Dingquan Yang. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis. Frontiers in Medicine, Dec 2025. URL: https://doi.org/10.3389/fmed.2025.1605851, doi:10.3389/fmed.2025.1605851. This article has 0 citations.

3. (xie2025autosomalrecessivewoolly pages 1-2): Ying Xie, Sha Luo, Yumei Yang, Xin Zou, Shuying Lv, Meijiao Du, Yonglong Xu, Xiaojuan Song, Changjie Qi, Nuo Li, and Dingquan Yang. Autosomal recessive woolly hair/hypotrichosis caused by liph mutations: a case report. Frontiers in Medicine, Jul 2025. URL: https://doi.org/10.3389/fmed.2025.1563299, doi:10.3389/fmed.2025.1563299. This article has 0 citations.

4. (shimomura2025molecularbasisof pages 2-4): Yutaka Shimomura. Molecular basis of hereditary hair diseases. The Keio journal of medicine, Jul 2025. URL: https://doi.org/10.2302/kjm.2023-0007-ir, doi:10.2302/kjm.2023-0007-ir. This article has 2 citations.

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10. (aisha2025molecularanalysisof pages 3-5): Bibi Aisha and Bibi Aisha¹. Molecular analysis of heredity hypotrichosis in consanguineous families in the district of karak, pakistan. Journal of Health, Wellness and Community Research, Jun 2025. URL: https://doi.org/10.61919/t6018574, doi:10.61919/t6018574. This article has 0 citations.

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12. (aisha2025molecularanalysisof pages 1-2): Bibi Aisha and Bibi Aisha¹. Molecular analysis of heredity hypotrichosis in consanguineous families in the district of karak, pakistan. Journal of Health, Wellness and Community Research, Jun 2025. URL: https://doi.org/10.61919/t6018574, doi:10.61919/t6018574. This article has 0 citations.

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14. (ramot2015thetwistingtale pages 3-5): Yuval Ramot and Abraham Zlotogorski. The twisting tale of woolly hair: a trait with many causes. Journal of Medical Genetics, 52:217-223, Jan 2015. URL: https://doi.org/10.1136/jmedgenet-2014-102630, doi:10.1136/jmedgenet-2014-102630. This article has 26 citations and is from a domain leading peer-reviewed journal.

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21. (zhang2023developmentofwoolly pages 1-2): Tao Zhang, Hongwu Yao, Hejun Wang, and Tingting Sui. Development of woolly hair and hairlessness in a crispr−engineered mutant mouse model with krt71 mutations. Cells, 12:1781, Jul 2023. URL: https://doi.org/10.3390/cells12131781, doi:10.3390/cells12131781. This article has 6 citations.

22. (zhang2023developmentofwoolly pages 2-4): Tao Zhang, Hongwu Yao, Hejun Wang, and Tingting Sui. Development of woolly hair and hairlessness in a crispr−engineered mutant mouse model with krt71 mutations. Cells, 12:1781, Jul 2023. URL: https://doi.org/10.3390/cells12131781, doi:10.3390/cells12131781. This article has 6 citations.

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