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Article

Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.

Calcified tissue international - 1 Aug 2013

Ichikawa Shoji, Gray Amie K, Bikorimana Emmanuel, Econs Michael J

Abstract excerpt

X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene, which increase circulating levels of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Because XLH is a dominant disease, one mutant allele is sufficient for manifestation of the disease. However, the dosage effect of a PHEX mutation in XLH is not completely understood. To examine the effect of Phex genotypes, we compared serum...

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Source

Open in PubMed Open full text

Identifiers

PMID: 23700148
DOI: 10.1007/s00223-013-9736-4
PMCID: PMC3742319

Genes

PHEX
FGF23

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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Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.PMID 23700148Read ↗

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