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Case Reports
. 2003 Jul 22;61(2):232-5.
doi: 10.1212/01.wnl.0000079371.19562.ba.

ARX mutations in X-linked lissencephaly with abnormal genitalia

G Uyanik  1 , L Aigner, P Martin, C Gross, D Neumann, H Marschner-Schäfer, U Hehr, J Winkler
Affiliations
Case Reports

ARX mutations in X-linked lissencephaly with abnormal genitalia

G Uyanik et al. Neurology. .

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.

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  • Mental retardation: X marks the spot.
    Patterson MC, Zoghbi HY. Patterson MC, et al. Neurology. 2003 Jul 22;61(2):156-7. doi: 10.1212/wnl.61.2.156. Neurology. 2003. PMID: 12874390 No abstract available.

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