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Article

Two novel GALNT3 mutations in familial tumoral calcinosis.

American journal of medical genetics. Part A - 15 Oct 2007

Garringer Holly J, Mortazavi Seyed Mohammad Javad, Esteghamat Fatemehsadat, Malekpour Mahdi, Boztepe Harika, Tanakol Refik, Davis Siobhan I, White Kenneth E

Abstract excerpt

Familial tumoral calcinosis (TC) is characterized by elevated serum phosphate concentrations, normal or elevated 1,25(OH)2 vitamin D, as well as periarticular and vascular calcifications. Recessive mutations in the mucin-like glycosyltransferase GalNAc transferase-3 (GALNT3) and the phosphaturic hormone fibroblast growth factor-23 (FGF23) have been shown to result in TC. In the present study, mutational analyses...

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Source

Identifiers

PMID: 17853462
DOI: 10.1002/ajmg.a.31947

Genes

GALNT3
FGF23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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