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Article

[Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 May 2014

Liu Shuang, Wei Min, Xiao Juan, Wang Chang-Yan, Qiu Zheng-Qing

Abstract excerpt

The clinical data of three Chinese children who had been definitely diagnosed with X-link dominate hypophosphatemic rickets (XLH) by gene mutation analysis of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) were retrospectively studied and the relevant literature was reviewed. PHEX gene mutations were detected in all 3 XLH children; a nonsense mutation (c.58C>T) in one case...

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Identifiers

PMID: 24857004

Genes

PHEX

Variants

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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