Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7144
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dc.contributor.authorPartington, M.en
dc.contributor.authorTurner, G.en
dc.contributor.authorBoyle, J.en
dc.contributor.authorGecz, J.en
dc.date.issued2004en
dc.identifier.citationClinical Genetics, 2004; 66(1):39-45en
dc.identifier.issn0009-9163en
dc.identifier.issn1399-0004en
dc.identifier.urihttp://hdl.handle.net/2440/7144-
dc.description.abstractThree 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 dystonic movements of the hands were seen in 63% and dysarthria in 54%. The focal dystonia, in association with mental retardation, may prove to be diagnostic of this mutation.en
dc.language.isoenen
dc.publisherBlackwell Munksgaarden
dc.subjectHumans; Dystonic Disorders; Mental Retardation, X-Linked; Syndrome; Homeodomain Proteins; Transcription Factors; Pedigree; Heterozygote; Mutation; Adult; Maleen
dc.titleThree new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.en
dc.typeJournal articleen
dc.identifier.rmid0020040653en
dc.identifier.doi10.1111/j.0009-9163.2004.00268.xen
dc.identifier.pubid56868-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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