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Article

[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 May 2017

Ran Qing, Xiong Feng, Zhu Min, Deng Lei-Li, Lei Pei-Yun, Luo Yan-Hong, Zeng Yan, Zhu Gao-Hui, Song Cui

Abstract excerpt

OBJECTIVE: To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology. METHODS: A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH. PCR-Sanger sequencing was used to verify the distribution of mutations...

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

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Identifiers

PMID: 28506344
PMCID: PMC7389139

Genes

PHEX

Variants

Provenance

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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