Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency

Xia, YJ; Shi, PL; Xia, JK; Zhang, HJ; Xu, LJ; Kong, XD

Kong, XD (corresponding author), Zhengzhou Univ, Affiliated Hosp 1, Henan Engn Res Ctr Gene Editing Human Genet Dis, Genet & Prenatal Diag Ctr, Zhengzhou, Peoples R China.

STEROIDS, 2021; 173 ():

Abstract

The condition 17a-Hydroxylase/17,20-lyase deficiency (17-OHD) is a rare kind of congenital adrenal hyperplasia (CAH) characterized by failure to synth......

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