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Article

Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.

Calcified tissue international - 1 May 2011

Jap Tjin-Shing, Chiu Chih-Yang, Niu Dau-Ming, Levine Michael A

Abstract excerpt

Mutations in the phosphate-regulating endopeptidase homolog, X-linked, gene (PHEX), which encodes a zinc-dependent endopeptidase that is involved in bone mineralization and renal phosphate reabsorption, cause the most common form of hypophosphatemic rickets, X-linked hypophosphatemic rickets (XLH). The distribution of PHEX mutations is extensive, but few mutations have been identified in Chinese with XLH. We...

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Source

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Identifiers

PMID: 21293852
DOI: 10.1007/s00223-011-9465-5
PMCID: PMC3075400

Genes

PHEX
FGF23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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