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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
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