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[Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2017

Luan Zhaotang, Li Huanzheng, Hu Lin, Chen Chong, Xu Xueqin, Xiang Yanbao, Tang Shaohua

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic mutation in a family affected with hypophosphatemic rickets. METHODS: Whole exome sequencing (WES) was used to screen potential mutations in genomic DNA extracted from peripheral venous blood sample from the proband. Suspected mutation was confirmed with Sanger sequencing. Amniotic fluid was sampled from the proband for prenatal diagnosis. Potential...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28981921
DOI: 10.3760/cma.j.issn.1003-9406.2017.05.002

Genes

PHEX

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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