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Article

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

Clinical genetics - 1 Jul 2004

Partington M W, Turner G, Boyle J, Gécz J

Abstract excerpt

Three families with X-linked mental retardation caused by a 24 base-pair duplication in ARX[428-451dup(24 bp)] are reported. The clinical features in these and six other published families are reviewed. In general, the clinical picture is variable. Mental retardation ranges from mild to severe. Infantile spasms (West syndrome) occurred in 12.5% and other less severe forms of seizures in 37.5%. Characteristic...

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Source

Identifiers

PMID: 15200506
DOI: 10.1111/j.0009-9163.2004.00268.x

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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Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.PMID 15200506Read ↗

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