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Article

Novel PHEX mutation associated with hypophosphatemic rickets.

Nephron. Physiology - 1 Jan 2007

Roetzer Katharina M, Varga Franz, Zwettler Elisabeth, Nawrot-Wawrzyniak Kamilla, Haller Joerg, Forster Ernst, Klaushofer Klaus

Abstract excerpt

BACKGROUND: X-linked hypophosphatemia (XLH) is the most prevalent heritable form of rickets. It is a dominantly inherited disorder, characterized by renal phosphate wasting, abnormal vitamin D and PTH metabolism, and defective bone mineralization. Inactivating mutations in the gene encoding PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome) have been found to be associated with...

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Source

Identifiers

PMID: 17406123
DOI: 10.1159/000101487

Genes

PHEX
PTH
FGF23

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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