A Novel Compound Heterozygous CYP17A1 Variant Causes 17 alpha-Hydroxylase/17, 20-Lyase Deficiency

Chen, H; Yuan, K; Zhang, BT; Jia, ZX; Chen, C; Zhu, YL; Sun, YP; Zhou, H; Huang, WD; Liang, L; Yan, QF; Wang, CL

Liang, L; Yan, QF; Wang, CL (reprint author), Zhejiang Univ, Affiliated Hosp 1, Coll Med, Dept Pediat, Hangzhou, Zhejiang, Peoples R China.; Yan, QF (reprint author), Zhejiang Univ, Coll Life Sci, Hangzhou, Zhejiang, Peoples R China.; Yan, QF (reprint aut

FRONTIERS IN GENETICS, 2019; 10 ():

Abstract

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive diseases characterized by enzyme deficiencies, within ster......

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