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Article

X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells.

Bone - 1 Nov 2023

Grimbly Chelsey, Ludwig Karissa, Wu Zenghui, Caluseriu Oana, Rosolowsky Elizabeth, Alexander R Todd, Ward Leanne M, Rauch Frank

Abstract excerpt

X-linked hypophosphatemia (XLH) is caused by dominant inactivating mutations in the phosphate regulating endopeptidase homology, X-linked (PHEX), resulting in elevated fibroblast growth factor 23 (FGF23), hypophosphatemia, rickets and osteomalacia. PHEX variants are identified in approximately 85 % of individuals with XLH, which leaves a substantial proportion of patients with negative DNA-based genetic testing....

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Source

Identifiers

PMID: 37454963
DOI: 10.1016/j.bone.2023.116839

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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