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Article

Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.

Calcified tissue international - 1 Dec 2007

Xia Weibo, Meng Xunwu, Jiang Yan, Li Mei, Xing Xiaoping, Pang Li, Wang Ou, Pei Yu, Yu Li-Yun, Sun Yue, Hu Yingying, Zhou Xueying

Abstract excerpt

X-linked dominant hypophosphatemia (XLH, OMIM307800), the most prevalent form of inherited rickets in humans, is a dominant disorder of phosphate homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal phosphate wasting. The gene responsible for XLH was identified by positional cloning and designated PHEX (formerly PEX) to depict a phosphate-regulating...

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Identifiers

PMID: 18046499
DOI: 10.1007/s00223-007-9067-4

Genes

PHEX
FGF23

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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