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Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree
1 Introduction Congenital adrenal hyperplasia (CAH, OMIM #201910) is a group of autosomal recessive inherited disorders resulting from genetic variants that affect adrenal steroidogenesis. The most prevalent type of CAH is 21-hydroxylase deficiency (21-OHD) due to the pathogenic variants in CYP21A2 (a gene encoding 21-hydroxylase enzyme) (Auer et al. 2023; El-Maouche, Arlt, and Merke 2017). 21-OHD accounts for approximately 95% of patients with CAH.
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