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[Analysis of CYP21A2 gene mutations in two families with 21-hydroxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2014

Zheng Ruizhi, Zhao Zhigang, Wang Yanfang, Yuan Huijuan, Wang Suijun, Su Yong, Ma Yuehua, Hu Zhijing, Tian Rui, Wang Limin

Abstract excerpt

OBJECTIVE: To analyze CYP21A2 gene mutation in two families with 21-hydroxylase deficiency (21-OHD) and to explore the correlation between genotype and clinical phenotype. METHODS: Two patients with 21-OHD and their families were investigated. CYP21A2 gene mutation was analyzed by PCR and direct sequencing. RESULTS: The probands from family 1 and 2 have been respectively diagnosed with simple virilizing and...

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Identifiers

PMID: 24928004
DOI: 10.3760/cma.j.issn.1003-9406.2014.03.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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