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Article

Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.

The Journal of clinical endocrinology and metabolism - 1 Apr 2008

Makras Polyzois, Hamdy Neveen A T, Kant Sarina G, Papapoulos Socrates E

Abstract excerpt

CONTEXT: X-linked hypophosphatemic rickets (XLH) is characterized by hypophosphatemia and growth retardation. Early diagnosis and treatment improve growth. OBJECTIVE: Our objective was to describe long-term observations of a family with XLH due to a novel mutation of the PHEX gene with unusual clinical features, including normal growth. PATIENTS: The mother and her two sons were followed in the same institution...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to PHEX Phosphate Regulating Neutral Endopeptidase

Source

Identifiers

PMID: 18252791
DOI: 10.1210/jc.2007-1296

Genes

PHEX

Provenance

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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