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Article

Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.

The Journal of clinical endocrinology and metabolism - 1 Sept 2006

Yang Jun, Cui Bin, Sun Shouyue, Shi Tieliu, Zheng Siyuan, Bi Yufang, Liu Jianmin, Zhao Yongju, Chen Jialun, Ning Guang, Li Xiaoying

Abstract excerpt

CONTEXT: P450c17 deficiency (17OHD), caused by mutation in CYP17A1 gene, is characterized by severe hypertension-hypokalemia, sexual infantilism in females, and pseudohermaphroditism in males. We investigated eight Chinese 17OHD patients with five novel mutations of CYP17A1 gene and analyzed phenotype-genotype correlation in a patient with regular menses and seven others with classic presentations by in vitro...

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Identifiers

PMID: 16772352
DOI: 10.1210/jc.2005-2283

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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