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Article

Insight into Natural History and Phenotype in Untreated Adults with X-Linked Hypophosphatemia.

Calcified tissue international - 10 Jul 2026

Baroncelli Giampiero I, Cetani Filomena, Toschi Benedetta, Bulleri Alessandra, Isola Alessandro, Giuca Maria Rita, Carli Elisabetta, Sessa Maria Rita, Pelosini Caterina, Michelucci Angela, Comberiati Pasquale

Abstract excerpt

X-linked hypophosphatemia (XLH) is a rare genetic rachitic/osteomalacic and dental disorder caused by pathogenic variants in PHEX gene resulting in fibroblast growth factor 23 (FGF23) excess leading to hypophosphatemia by renal phosphate wasting and decreased 1,25-dihydroxyvitamin D production. The aim of the study was to provide insight into natural history and phenotype in untreated adults with XLH (no...

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Source

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Identifiers

PMID: 42429952
DOI: 10.1007/s00223-026-01555-1
PMCID: PMC13354646

Genes

FGF23
PHEX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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