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Article

Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX.

Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2003

Strømme P, Bakke S J, Dahl A, Gécz J

Abstract excerpt

The novel Aristaless related homeobox gene, ARX, is widely expressed in the brain and is thought to play a key role in the regulation of brain development. Neurological phenotypes caused by ARX mutations have recently started to unfold. We describe a 72 year old man with X-linked mental retardation due to a 24 bp duplication mutation in exon 2 of the ARX gene. Cerebral MRI showed bilateral cystic-like cavities in...

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Identifiers

PMID: 12640086
DOI: 10.1136/jnnp.74.4.536
PMCID: PMC1738381

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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Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX.PMID 12640086Read ↗

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