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Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets.

Pediatric endocrinology reviews : PER - 1 Jun 2004

Baroncelli Giampiero Igli, Bertelloni Silvano, Sodini Federica, Galli Laura, Vanacore Teresa, Fiore Lisa, Saggese Giuseppe

Abstract excerpt

X-linked hypophosphatemic rickets (XLH) is an hereditary form of rickets due to isolated renal tubular phosphate wasting and impaired production of 1,25-dihydroxyvitamin D [1,25(OH)2D]. XLH is caused by mutations in the PHEX (phosphate regulating gene with homology to endopeptidases) gene, which is located on Xp22.1. The pathogenetic mechanisms by which mutations in the PHEX gene cause XLH are not completely...

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Identifiers

PMID: 16437029

Genes

PHEX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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