Autor: Peiran Zhao
-
Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia
BackgroundScreening for congenital adrenal hyperplasia (CAH) relying solely on 17α-hydroxyprogesterone (17α-OHP) presents limited diagnostic performance, highlighting an urgent need to develop more robust screening strategies for neonates.MethodsWe con…