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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. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    3. The <i>hairless</i> gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor Genes & Development · 2001 · 178 citations
    4. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management Endocrine Reviews · 2021 · 157 citations
    5. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    6. Methimazole, Carbimazole, and Congenital Skin Defects Annals of Internal Medicine · 1987 · 132 citations
    7. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    8. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    9. 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
    10. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
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