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Article

GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis.

Scandinavian journal of rheumatology - 1 Jan 2015

Demellawy D El, Chang N, de Nanassy J, Nasr A

Abstract excerpt

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Topics

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Share to Calcinosis
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Share to Mutation
Share to N-Acetylgalactosaminyltransferases

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

Share to Osteomyelitis

Share to Polypeptide N-acetylgalactosaminyltransferase

Share to Tomography, Emission-Computed, Single-Photon

Source

Identifiers

PMID: 25351881
DOI: 10.3109/03009742.2014.958100

Genes

GALNT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis.PMID 25351881Read ↗

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disordersSemantic 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 ↗

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

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

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

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern TurkeySemantic proximity Read ↗

[Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23].Semantic proximity Read ↗

Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindredSemantic proximity Read ↗

Clinical and Functional Characterization of Novel GALNT3 Mutations in a Chinese Child with Hyperphosphatemic Familial Tumoral Calcinosis.Semantic proximity Read ↗

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

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.Semantic proximity Read ↗

A case of familial tumoral calcinosis/hyperostosis–hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic featuresSemantic proximity Read ↗

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