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Article

PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.

Human genetics - 1 May 2009

Gaucher Céline, Walrant-Debray Odile, Nguyen Thy-Minh, Esterle Laure, Garabédian Michèle, Jehan Frédéric

Abstract excerpt

Familial hypophosphatemic rickets is a rare disease, which is mostly transmitted as an X-linked dominant trait, and mutations on the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) gene are responsible for the disease in most familial cases. In this study we analyzed PHEX in a large cohort of 118 pedigrees representing 56 familial cases and 62 sporadic cases. The...

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Source

Identifiers

PMID: 19219621
DOI: 10.1007/s00439-009-0631-z

Genes

PHEX

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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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