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Article

[CYP21 gene point mutations study in 21-hydroxylase deficiency patients].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Sept 2003

Liao Xiang-yun, Zhang Ya-fen, Gu Xue-fan

Abstract excerpt

OBJECTIVE: The major cause of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency, which accounts for 90% - 95% of all cases in most populations. This study was conducted to characterize the molecular basis of the 21-hydroxylase deficiency and to obtain the spectrum of the CYP21 gene mutations in a group of Chinese patients, and analyze the relationship of genotype and phenotype. METHODS: To detect...

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PMID: 14733808

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

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