Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India

ConclusionsWe have developed and validated a comprehensive NGS-based assay for detection of variants inCYP21A2 gene in patients with 21-OH CAH. We describeCYP21A2 mutation spectrum and novel variants in a large cohort of Indian patients with CAH.
Source: Endocrine - Category: Endocrinology Source Type: research