Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia

摘要

BackgroundCongenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype‐phenotype relationship.