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

doi:10.1007/s00223-013-9736-4

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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...

Topics

Alleles
Animals
Bone Density
Familial Hypophosphatemic Rickets
Female
Femur
Fibroblast Growth Factor-23
Fibroblast Growth Factors
Gene Dosage
Genotype
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mice

Mutation

PHEX Phosphate Regulating Neutral Endopeptidase

Phenotype

Phosphates

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 30 Aug 2026.

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