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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 diagnosis from other syndromes associated with extraskeletal calcifications may be difficult. Mutations in the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis.PMID 19411468Read ↗

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Two novel GALNT3 mutations in familial tumoral calcinosis.Semantic proximity Read ↗

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A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.Semantic proximity Read ↗

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.Semantic proximity Read ↗

Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.Semantic proximity Read ↗

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A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.Semantic proximity Read ↗

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.Semantic proximity Read ↗

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