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    1. 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
    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. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998 · 83 citations
    4. 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
    5. 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population. PubMed · 2006 · 46 citations
    6. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    7. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    8. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    9. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    10. Ugreelig hår Tidsskrift for Den norske legeforening · 2022 · 1 citations
    11. The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs BMC Genomics · 2025
    12. 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
    13. Inherited Hairlessness: A Case Study of Familial Congenital Atrichia Curēus · 2023
    14. Alopecia frontal fibrosante: revisão bibliográfica dos aspectos gerais, fisiopatológicos, diagnósticos e do tratamento Brazilian Journal of Health Review · 2024
    15. Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome? Pediatric dermatology · 2004 · 13 citations
    16. 4 Vitamin D resistance Baillière's clinical endocrinology and metabolism · 1994 · 13 citations
    17. Atrichia With Papular Lesions Archives of Dermatology · 1986 · 32 citations
    18. Alopezien und Hypotrichosen im Kindesalter Der Hautarzt · 2014 · 5 citations
    19. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    20. Mutation des menschlichen hairless -Gens bei Atrichia universalis Der Hautarzt · 1998 · 2 citations
    21. A Newborn With Hair Loss Clinical pediatrics · 2013 · 1 citations
    22. Ocular aspects in biotinidase deficiency Clinical and genetic original studies Ophthalmic Paediatrics and Genetics · 1987 · 12 citations
    23. Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets International Journal of Contemporary Pediatrics · 2023
    24. Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities Neuropediatrics · 2012
    25. Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families The Journal of Dermatology · 2011 · 11 citations
    26. [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns]. PubMed · 1998 · 6 citations
    27. Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities Clinical case reports · 2017 · 3 citations
    28. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    29. Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review The Journal of Dermatology · 2018 · 9 citations
    30. Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family Dermatology Reports · 2011 · 1 citations