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[A compound heterozygous mutation in CYP17A1 gene in a female subject with partial 17α-hydroxylase/17, 20 lyase deficiency].

Zhonghua yi xue za zhi - 13 Sept 2011

Jiang Yan, Zhang Da, Nie Min, Xiao Xin-Hua, Yu Qi, Lu Zhao-Lin

Abstract excerpt

OBJECTIVE: To explore the clinical and molecular genetic characteristics of a Chinese female patient with partial 17α-hydroxylase/17, 20 lyase deficiency (17OHD), a rare type of congenital adrenal hyperplasia. METHODS: Her clinical features and laboratory data were collected. Genomic DNA was extracted from leukocytes of peripheral blood of her and her mother. All eight exons of CYP17A1 gene, including flanking...

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PMID: 22321788

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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