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Article

A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis.

The Journal of bone and joint surgery. American volume - 1 May 2009

Masi L, Gozzini A, Franchi A, Campanacci D, Amedei A, Falchetti A, Franceschelli F, Marcucci G, Tanini A, Capanna R, Brandi M L

Abstract excerpt

BACKGROUND: Tumoral calcinosis is a rare disease characterized by hyperphosphatemia due to hypophosphaturia and by ectopic calcifications. Phosphatonins are important hormones that regulate phosphorus homeostasis. Tumoral calcinosis is a rare congenital disorder in which the differential diagnosi...

Read the complete abstract on PubMed

Topics

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Share to Calcinosis
Share to Fibroblast Growth Factor-23
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to N-Acetylgalactosaminyltransferases

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Share to Polypeptide N-acetylgalactosaminyltransferase

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Source

Identifiers

PMID: 19411468
DOI: 10.2106/JBJS.H.00783

Genes

FGF23
GALNT3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19411468-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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