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[Analysis of PHEX gene variant and prenatal diagnosis for a Chinese pedigree affected with X-linked hypophosphatemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021

Cao Peixuan, Zhu Xiangyu, Li Jie

Abstract excerpt

OBJECTIVE: To detect pathological variant in a Chinese pedigree affected with X-linked hypophosphatemia (XLH). METHODS: Whole-exome sequencing was carried out to screen genetic variants in the proband and her parents. Candidate variant of the phosphate regulating gene with homologies to endopeptidases on the X chromosome (PHEX) was verified by Sanger sequencing of all members of the pedigree and the 100 healthy...

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Identifiers

PMID: 34729760
DOI: 10.3760/cma.j.cn511374-20201125-00827

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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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