A novel 13-bp deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia
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Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21). In most cases, this defect is the result of gene conversion events between the functional CYP21 gene and the adja... ...
