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    1. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    2. A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome Journal of Dermatological Science · 2016
    3. The <i>hairless</i> gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor Genes & Development · 2001 · 178 citations
    4. Genes of Congenital Dermatologic Disorders in Dogs—A Review Folia veterinaria · 2021
    5. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    6. Sexual function in women with androgen excess disorders: classic forms of congenital adrenal hyperplasia and polycystic ovary syndrome Journal of Endocrinological Investigation · 2020 · 5 citations
    7. Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency Dermatology Reports · 2023
    8. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    9. Prognosis and Management of Congenital Hair Shaft Disorders without Fragility—Part II Pediatric Dermatology · 2016 · 14 citations
    10. Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV) British Journal of Haematology · 2026
    11. Role of trichoscopy in diagnosis of different hair and scalp disorders in pediatrics International Journal of Dermatology Venereology and Leprosy Sciences · 2024
    12. Congenital Adrenal Hyperplasia Pediatrics in Review · 2009 · 13 citations
    13. Dermatologic manifestations of endocrine disorders Current Opinion in Pediatrics · 2012 · 11 citations
    14. Endocrine Disorders and Infertility Infertility · 2011 · 1 citations
    15. Voice changes in reproductive disorders, thyroid disorders and diabetes: a review Endocrine connections · 2022
    16. Congenital and Hereditary Skin Diseases 2018
    17. Disorders of Keratinization 2014
    18. Androgenic disorders Trends in Endocrinology and Metabolism · 1996
    19. Hair loss disorders in domestic animals Wiley-Blackwell eBooks · 2009 · 4 citations
    20. Keratin disorders: from gene to therapy 2011 · 109 citations
    21. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    22. AN UPDATE OF HAIR SHAFT DISORDERS Dermatologic clinics · 1996 · 12 citations
    23. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    24. Disorders of hair in children Current Paediatrics · 2003
    25. Pachyonychia congenita: Sporadic onset with mutation analysis Indian dermatology online journal · 2023
    26. 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report Journal of Advances in Internal Medicine · 2021
    27. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    28. Hair and nail disorders CRC Press eBooks · 2021
    29. Trichoscopy in hair disorders in darker skin: An approach to diagnosis Clinical dermatology review · 2020 · 3 citations
    30. Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development Seminars in reproductive medicine · 2012 · 46 citations