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Article

Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2015

Ghafouri-Fard Soudeh, Abbasi Farzaneh, Azizi Faezeh, Javaheri Mona, Mehdizadeh Mehrzad, Setoodeh Arya

Abstract excerpt

Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare autosomal recessive metabolic disorder caused by mutations in the GALNT3 and FGF23 genes. The main features of this disorder include painful swelling of long bones, increased renal reabsorption of phosphate but normal renal function and vitamin D and parathormone levels. Previously, we reported a novel missense mutation in the FGF23 gene in a patient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25153226
DOI: 10.1515/jpem-2014-0178

Genes

FGF23
GALNT3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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