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Article

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

14 Dec 2004

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 15599692
DOI: 10.1007/s00109-004-0610-8

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Related research

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Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disordersPMID 15599692Read ↗

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

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

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

Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.Semantic proximity Read ↗

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

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

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

Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.Semantic proximity Read ↗

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

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

Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.Semantic proximity Read ↗

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