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[Clinical and genetic analysis of a pedigree affected with cytochrome P450 oxidoreductase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2020

Li Hongying, Dong Rui, Zhang Kaihui, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the clinical features and molecular basis of a Chinese pedigree with two siblings affected by cytochrome P450 oxidoreductase deficiency (PORD). METHODS: Clinical features of the patients were reviewed, and their genomic DNA was subjected to next generation sequencing (NGS). RESULTS: The two siblings presented peculiar facies, genital hypoplasia and skeletal deformity. NGS revealed that both...

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PMID: 32820517
DOI: 10.3760/cma.j.cn511374-20190912-00468

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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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