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

3 Nov 2008

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PMID: 18982401
DOI: 10.1007/s00198-008-0775-z

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A case of familial tumoral calcinosis/hyperostosis–hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic featuresPMID 18982401Read ↗

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

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

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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 ↗

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

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

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

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

Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.Semantic proximity Read ↗

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

Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report.Semantic proximity Read ↗

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