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    1. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    2. The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region American Journal of Medical Genetics · 1997 · 39 citations
    3. Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations. Acta Dermato Venereologica · 1991 · 17 citations
    4. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Human Genetics · 2010 · 40 citations
    5. [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)]. PubMed · 1979 · 5 citations
    6. Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V Frontiers in Genetics · 2021 · 6 citations
    7. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    8. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    9. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010 · 97 citations
    10. Polycystic Ovaries Are Inherited as an Autosomal Dominant Trait: Analysis of 29 Polycystic Ovary Syndrome and 10 Control Families The Journal of Clinical Endocrinology & Metabolism · 1999 · 63 citations
    11. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    12. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    13. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance British Journal of Dermatology · 2012 · 15 citations
    14. A nonsense variant in <i>KRT31</i> is associated with autosomal-dominant monilethrix 2024
    15. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    16. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    17. A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13 Human Molecular Genetics · 1995 · 54 citations
    18. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 29 citations
    19. Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene Journal of the European Academy of Dermatology and Venereology · 2017 · 6 citations
    20. Monilethrix in three generations Indian Journal of Dermatology · 2008 · 6 citations
    21. Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis European Journal of Dermatology · 2019 · 3 citations
    22. Familial congenital generalized hypertrichosis Indian journal of dermatology, venereology, and leprology · 2013 · 1 citations
    23. Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity British Journal of Dermatology · 1997 · 21 citations
    24. The Role of rs6152 Allele and Non-Genetic Factors in Androgenetic Alopecia: A Pilot Study in the Indonesian Local Population Bioscientia medicina · 2024
    25. Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations Indian Journal of Paediatric Dermatology · 2022
    26. Clinical and molecular genetic studies in hereditary hair loss 2021
    27. Common genetic hair shaft abnormalities may be visualized by light and electron microscope Global Dermatology · 2019
    28. Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil Research Square (Research Square) · 2022
    29. A Small Deletion Hotspot in the Type II Keratin Gene<i>mK6irs1/Krt2-6g</i>on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (<i>Ca</i>) Mutation Genetics · 2003 · 53 citations
    30. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations