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    1. Methimazole, Carbimazole, and Congenital Skin Defects Annals of Internal Medicine · 1987 · 132 citations
    2. A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content Journal of Investigative Dermatology · 1970 · 84 citations
    3. Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII Helda (University of Helsinki) · 2013
    4. Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita Journal of Investigative Dermatology · 2007 · 46 citations
    5. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    6. Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development Seminars in reproductive medicine · 2012 · 46 citations
    7. Genes of Congenital Dermatologic Disorders in Dogs—A Review Folia veterinaria · 2021
    8. Office Diagnosis of Hair Shaft Defects Seminars in cutaneous medicine and surgery · 2006 · 33 citations
    9. Outcomes of Tissue Expander Application for Scalp Reconstruction in Extensive Aplasia Cutis Congenita Aesthetic Plastic Surgery · 2015 · 4 citations
    10. Androgen Biosynthesis and Gene Defects Elsevier eBooks · 2014
    11. Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument Neuropediatrics · 2004 · 80 citations
    12. Secondary cicatricial and other permanent alopecias Dermatologic Therapy · 2008 · 20 citations
    13. Teratogenic effect of isotretinoin in both fertile females and males (Review) Experimental and Therapeutic Medicine · 2021 · 19 citations
    14. Chemical Danger in Hair Keratin Care 2023
    15. Secondary Cicatricial and other Permanent Alopecias Springer eBooks · 2008
    16. PATHOGENESIS OF GENETIC HUMAN HAIR DISORDERS The Journal of Dermatology · 1981 · 1 citations
    17. Human ClinicalPhenotype Associated with FOXN1 Mutations Advances in experimental medicine and biology · 2009 · 22 citations
    18. Scalp Repair Using Tissue Expanders Facial Plastic Surgery Clinics of North America · 2013 · 11 citations
    19. The diversity of sex development: What do conditions affecting sex development teach us about sexual diversity? Physiology News · 2021
    20. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    21. Severe Hypernatremia as Presentation of Netherton Syndrome Global Medical Genetics · 2023
    22. Hair Loss in Children Elsevier eBooks · 2018
    23. Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities Neuropediatrics · 2012
    24. The hair in childhood and old age Journal of applied cosmetology · 2002
    25. Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria Pediatric Dermatology · 1997 · 7 citations
    26. Síndrome postfinasterida y disfunción eréctil. Caso clínico y revisión de la literatura Revista Chilena de Urología · 2023
    27. Adams–Oliver syndrome: new evidence in variable expressivity? International Journal of Dermatology · 2013
    28. Cell Polarization Defects in Early Heart Development Circulation Research · 2007 · 9 citations
    29. Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz<sup>ica</sup>) mice points to <i>fuzzy</i> as a key element of hair cycle control Experimental dermatology · 2005 · 20 citations
    30. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations