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Article

Mutation screening of the ARX gene in patients with autism.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Mar 2007

Chaste Pauline, Nygren Gudrun, Anckarsäter Henrik, Råstam Maria, Coleman Mary, Leboyer Marion, Gillberg Christopher, Betancur Catalina

Abstract excerpt

Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain abnormalities and abnormal genitalia. Furthermore, ARX mutations...

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Identifiers

PMID: 17044103
DOI: 10.1002/ajmg.b.30440
PMCID: PMC4826442

Genes

ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17044103-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutation screening of the ARX gene in patients with autism.PMID 17044103Read ↗

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Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.Semantic proximity Read ↗

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Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.Semantic proximity Read ↗

X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations.Semantic proximity Read ↗

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.Semantic proximity Read ↗

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