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Article

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

The Journal of investigative dermatology - 1 Mar 2010

Sprecher Eli

Abstract excerpt

Familial tumoral calcinosis (FTC) refers to a heterogeneous group of inherited disorders characterized by the occurrence of cutaneous and subcutaneous calcified masses. Two major forms of the disease are now recognized. Hyperphosphatemic FTC has been shown to result from mutations in three genes:...

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Source

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Identifiers

PMID: 19865099
DOI: 10.1038/jid.2009.337
PMCID: PMC3169303

Genes

FGF23
GALNT3
SAMD9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19865099-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.PMID 19865099Read ↗

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Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.Semantic proximity Read ↗

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

Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.Semantic proximity Read ↗

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.Semantic proximity Read ↗

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.Semantic proximity Read ↗

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

Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.Semantic proximity Read ↗

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

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.Semantic proximity Read ↗

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