CYP17A1型
先天性肾上腺增生
21羟化酶
基因
遗传学
复合杂合度
生物
医学
内分泌学
内科学
突变
作者
Yaqing Cao,Zhiyuan Zhao,Lin Lü,Xiaoxia Zhang,Wei Zhang,Bang Sun,Anli Tong,Shi Chen,Xi Wang,Jiangfeng Mao,Xueyan Wu,Min Nie
标识
DOI:10.1210/clinem/dgae414
摘要
17α-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare subtype of congenital adrenal hyperplasia (CAH) caused by homozygous or compound heterozygous pathogenic variants in the CYP17A1 gene.
科研通智能强力驱动
Strongly Powered by AbleSci AI