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Article

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

The Journal of clinical endocrinology and metabolism - 1 May 2007

Ichikawa Shoji, Guigonis Vincent, Imel Erik A, Courouble Mélanie, Heissat Sophie, Henley John D, Sorenson Andrea H, Petit Barbara, Lienhardt Anne, Econs Michael J

Abstract excerpt

CONTEXT: Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare metabolic disorder characterized by hyperphosphatemia and localized hyperostosis. HHS is caused by mutations in GALNT3, which encodes UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3. Familial tumo...

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Source

Identifiers

PMID: 17311862
DOI: 10.1210/jc.2006-1825

Genes

FGF23
GALNT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17311862-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.PMID 17311862Read ↗

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