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Article

ARX spectrum disorders: making inroads into the molecular pathology.

Human mutation - 1 Aug 2010

Shoubridge Cheryl, Fullston Tod, Gécz Jozef

Abstract excerpt

The Aristaless-related homeobox gene (ARX) is one of the most frequently mutated genes in a spectrum of X-chromosome phenotypes with intellectual disability (ID) as their cardinal feature. To date, close to 100 families and isolated cases have been reported to carry 44 different mutations, the majority of these (59%) being a result of polyalanine tract expansions. At least 10 well-defined clinical entities,...

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Source

Identifiers

PMID: 20506206
DOI: 10.1002/humu.21288

Genes

ARX

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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ARX spectrum disorders: making inroads into the molecular pathology.PMID 20506206Read ↗

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