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Article

Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis.

American journal of physiology. Endocrinology and metabolism - 1 Oct 2008

Garringer Holly J, Malekpour Mahdi, Esteghamat Fatemehsadat, Mortazavi Seyed M J, Davis Siobhan I, Farrow Emily G, Yu Xijie, Arking Dan E, Dietz Harry C, White Kenneth E

Abstract excerpt

Fibroblast growth factor 23 (FGF23) is a hormone required for normal renal phosphate reabsorption. FGF23 gain-of-function mutations result in autosomal dominant hypophosphatemic rickets (ADHR), and FGF23 loss-of-function mutations cause familial hyperphosphatemic tumoral calcinosis (TC). In this study, we identified a novel recessive FGF23 TC mutation, a lysine (K) substitution for glutamine (Q) (160 C>A) at...

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Source

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Identifiers

PMID: 18682534
DOI: 10.1152/ajpendo.90456.2008
PMCID: PMC2575904

Genes

FGF23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis.PMID 18682534Read ↗

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