Uyanik, G. and Aigner, L. and Martin, P. and Gross, C. and Neumann, D. and Marschner-Schafer, H. and Hehr, U. and Winkler, Juergen (2003) ARX mutations in X-linked lissencephaly with abnormal genitalia. NEUROLOGY, 61 (2). pp. 232-235. ISSN 0028-3878
Full text not available from this repository. (Request a copy)Abstract
X-linked lissencephaly with abnormal genitalia (XLAG) is a distinct form of lissencephaly associated with absent corpus callosum. Recently, forms of syndromic and nonspecific X-linked mental retardation have been found to be associated with mutations in the Aristaless-related homeobox gene ARX. The authors assessed ARX as a candidate gene for XLAG in a genetic analysis of neuronal migration disorders and found two different point mutations in two XLAG pedigrees affecting the homeodomain of the protein, confirming that ARX is a causative gene for XLAG.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ABSENT CORPUS-CALLOSUM; MENTAL-RETARDATION; AMBIGUOUS GENITALIA; HOMEOBOX GENE; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 06 Sep 2021 08:32 |
| Last Modified: | 06 Sep 2021 08:32 |
| URI: | https://pred.uni-regensburg.de/id/eprint/38814 |
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