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Article

Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Mar 2005

Chou Yen-Yin, Chao Sheau-Chiou, Tsai Shang-Chun, Lin Shio-Jean

Abstract excerpt

Hypophosphatemic rickets is a genetic disorder commonly associated with renal phosphate wasting and bone deformities. The PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X chromosome) encodes a 749-amino acid protein that putatively consists of an intracellular, transmembrane, and extracellular domain. PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients....

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Identifiers

PMID: 15818436

Genes

PHEX

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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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