Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/37377
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Stromme, P. | - |
dc.contributor.author | Bakke, S. | - |
dc.contributor.author | Dahl, A. | - |
dc.contributor.author | Gecz, J. | - |
dc.date.issued | 2003 | - |
dc.identifier.citation | Journal of Neurology, Neurosurgery and Psychiatry, 2003; 74(4):536-538 | - |
dc.identifier.issn | 0022-3050 | - |
dc.identifier.issn | 1468-330X | - |
dc.identifier.uri | http://hdl.handle.net/2440/37377 | - |
dc.description.abstract | 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 both the cerebral and cerebellar hemispheres. No retraction or expansion in neighbouring parenchyma was observed, there was no history of acute neurological impairment, and no risk factors for cerebrovascular disease were found. The lesions appeared to be congenital and represented benign developmental cysts, possibly caused by the ARX mutation. | - |
dc.description.statementofresponsibility | P. Stromme, S.J. Bakke, A. Dahl and J. Gecz. | - |
dc.language.iso | en | - |
dc.publisher | British Med Journal Publ Group | - |
dc.rights | Copyright © 2003 by the BMJ Publishing Group Ltd. | - |
dc.source.uri | http://jnnp.bmj.com/cgi/content/abstract/74/4/536 | - |
dc.subject | ARX gene, brain cysts, X-linked mental retardation | - |
dc.title | Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1136/jnnp.74.4.536 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Gecz, J. [0000-0002-7884-6861] | - |
Appears in Collections: | Aurora harvest 6 Paediatrics publications |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
hdl_37377.pdf | 170.24 kB | Publisher's PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.