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Article

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.

Journal of bone and mineral metabolism - 1 Jan 2010

Gribaa Moez, Younes Mohamed, Bouyacoub Yosra, Korbaa Wided, Ben Charfeddine Ilhem, Touzi Mongi, Adala Labiba, Mamay Ons, Bergaoui Naceur, Saad Ali

Abstract excerpt

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disease, characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D(3) (calcitriol) levels. This syndrome involves rickets with bone deformities in childhood and osteomalacia, osteoporosis, articular and para-articular pain, and fatigue in adulthood. It is caused by mutations in a consensus...

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Source

Identifiers

PMID: 19655082
DOI: 10.1007/s00774-009-0111-5

Genes

FGF23

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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