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Article

X-linked hypophosphatemia: The medical expert's challenges and the patient's concerns on their journey with the disease.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Oct 2021

Hamdy Neveen A T, Harvengt Pol, Usardi Alessia

Abstract excerpt

X-linked hypophosphatemia (XLH) is a rare inheritable disorder of phosphate handling due to loss of function mutations of the PHEX gene, associated with increased production of FGF23 and impaired bone mineralization. In children, the disease's most common manifestations are bowing deformities of the lower limbs, short stature, and spontaneous dental abscesses. In adults, these are osteomalacia, insufficiency...

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Source

Identifiers

PMID: 34593293
DOI: 10.1016/j.arcped.2021.09.005

Genes

FGF23
PHEX

Provenance

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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