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Article

PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.

Human mutation - 1 Jan 2000

Sabbagh Y, Jones A O, Tenenhouse H S

Abstract excerpt

X-linked hypophosphatemia (XLH) is a dominant disorder of phosphate (Pi) homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal defects in Pi reabsorption and vitamin D metabolism. The gene responsible for XLH was identified by positional cloning and designated PHEX (formerly PEX) to depict a Phosphate regulating gene with homology to Endopeptidases on...

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Source

Identifiers

PMID: 10874297
DOI: 10.1002/1098-1004(200007)16:1<1::AID-HUMU1>3.0.CO;2-J

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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PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.PMID 10874297Read ↗

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