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Article

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey

Journal of clinical research in pediatric endocrinology - 20 Feb 2019

Kışla Ekinci Rabia Miray, Gürbüz Fatih, Balcı Sibel, Bişgin Atıl, Taştan Mehmet, Yüksel Bilgin, Yılmaz Mustafa

Abstract excerpt

Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23), klotho (KL) and polypeptide N-acetylgalactosaminotransferase 3 (GALNT3) genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC present with hyperphosphatemia and tumor like soft tissue calcifications. Although 78% of patients develop their first symptoms between the ages of 2-13...

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Source

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Identifiers

PMID: 30015621
DOI: 10.4274/jcrpe.galenos.2018.2018.0134
PMCID: PMC6398194

Genes

GALNT3
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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