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Article

A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome.

European journal of endocrinology - 1 Jun 2008

Olauson Hannes, Krajisnik Tijana, Larsson Charlotta, Lindberg Bengt, Larsson Tobias E

Abstract excerpt

OBJECTIVE: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare hereditary disorder characterized by hyperphosphataemia, inappropriately normal or elevated 1,25-dihydroxyvitamin D(3) and localized painful cortical hyperostosis. HHS was shown to be caused by inactivating mutations in GALNT3, e...

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Share to Enzyme-Linked Immunosorbent Assay
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

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Share to Polypeptide N-acetylgalactosaminyltransferase

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Source

Identifiers

PMID: 18322299
DOI: 10.1530/EJE-08-0011

Genes

GALNT3
FGF23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18322299-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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