Accurate Diagnosis of Congenital Adrenal Hyperplasia due to CYP21A2 Variants Requires Promoter Analysis
{{output}}
Objective: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disease mostly caused by compound heterozygous pathogenic CYP21A2 variants. CYP21A2 promoter analysis is frequent... ...
