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Article

Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.

Nephron. Physiology - 1 Jan 2010

Chandran M, Chng C L, Zhao Y, Bee Y M, Phua L Y, Clarke B L

Abstract excerpt

INTRODUCTION: X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations. CLINICAL PICTURE: We describe a novel nonsense mutation in exon 3 of the PHEX gene (Glu(96)X (c.286G>T) causing XLH in a mother and daughter of Indian ancestry. The mother was noted to have concomitant vitamin D insufficiency. CONCLUSION: Our report...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20664300
DOI: 10.1159/000319318

Genes

PHEX

Variants

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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