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Article

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.

Neurology - 12 Dec 2006

Szczaluba K, Nawara M, Poirier K, Pilch J, Gajdulewicz M, Spodar K, Chelly J, Bal J, Mazurczak T

Abstract excerpt

We screened 165 mentally retarded patients for ARX gene 428-451 base pair (bp) duplication. Eighteen individuals from five families were found to carry the duplication, and all had intellectual impairment. Twelve presented with focal hand dystonia, while six patients had EEG abnormalities includi...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17082467
DOI: 10.1212/01.wnl.0000247833.29314.5b

Genes

ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17082467-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.PMID 17082467Read ↗

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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Semantic proximity Read ↗

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Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.Semantic proximity Read ↗

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The ARX mutations: a frequent cause of X-linked mental retardation.Semantic proximity Read ↗

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