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    1. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    2. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    3. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    4. Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice bioRxiv (Cold Spring Harbor Laboratory) · 2024
    5. Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats Journal of Heredity · 2007 · 75 citations
    6. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    7. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    8. Inherited Hairlessness: A Case Study of Familial Congenital Atrichia Curēus · 2023
    9. Alopecia frontal fibrosante: revisão bibliográfica dos aspectos gerais, fisiopatológicos, diagnósticos e do tratamento Brazilian Journal of Health Review · 2024
    10. 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population. PubMed · 2006 · 46 citations
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