Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHumansSteroid 21-HydroxylaseFemalePregnancyAdrenal Hyperplasia
[Prenatal genetic analysis of a fetus with 21-hydroxylase deficiency due to compound heterozygous variants of CYP21A2 gene].
Weiguo Zhang, Jun Wang, Feiyan Pan, Milei Zhu, Wenluo Tu, Weiqing Zhang
Published: 202510.3760/cma.j.cn511374-20241101-00573
Abstract
OBJECTIVE: To investigate the clinical phenotype and genetic diagnosis process of fetuses with 21 hydroxylase deficiency (21-OHD) caused by compound heterozygous variant of the CYP21A2 gene . METHODS: A fetus who was diagnosed at Taizhou Hospital in…
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