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Article

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.

Bone - 1 Oct 2008

Ichikawa Shoji, Traxler Elizabeth A, Estwick Selina A, Curry Leah R, Johnson Michelle L, Sorenson Andrea H, Imel Erik A, Econs Michael J

Abstract excerpt

X-linked hypophosphatemic rickets (XLH) is a dominantly inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. XLH is caused by inactivating mutations in PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). In this study, we sequenced the PHEX gene in subjects from 26 kindreds who were clinically diagnosed...

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Source

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Identifiers

PMID: 18625346
DOI: 10.1016/j.bone.2008.06.002
PMCID: PMC2579265

Genes

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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