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Article

Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.

Molecular medicine reports - 1 Mar 2018

Liu Jia, Zhang Xiujuan, Zhang Haiqing, Fang Li, Xu Jin, Guan Qingbo, Xu Chao

Abstract excerpt

21‑Hydroxylase deficiency (21‑OHD) is the most common cause of congenital adrenal hyperplasia. Inherited in an autosomal recessive manner, 21‑OHD is caused by mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene. The present study was designed to investigate the genetic characteristics of one Chinese pedigree and to identify the genotype‑phenotype association, thereby facilitating the...

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Source

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Identifiers

PMID: 29328376
DOI: 10.3892/mmr.2018.8391
PMCID: PMC5802198

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Source receipt: pubmed, retrieved 7 Sept 2026.

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