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Article

Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

The Journal of steroid biochemistry and molecular biology - 1 Sept 2022

Xia Yanjie, Shi Panlai, Gao Shanshan, Liu Ning, Zhang Huijuan, Kong Xiangdong

Abstract excerpt

Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency is an autosomal-recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to analyze the molecular data of 155 21-OHD patients and retrospectively investigated the common allelic mutations of CYP21A2 in 1442 Chinese 21-OHD patients. Clinical features and mutations of CYP21A2 gene in 155 unrelated 21-OHD patients were...

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Identifiers

PMID: 35882282
DOI: 10.1016/j.jsbmb.2022.106156

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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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