ARX mutations in X-linked lissencephaly with abnormal genitalia

被引：61

作者：

Uyanik, G

Aigner, L

Martin, P

Gross, C

Neumann, D

Marschner-Schäfer, H

Hehr, U

Winkler, J

机构：

[1] Univ Regensburg, Dept Neurol, D-93053 Regensburg, Germany

[2] Univ Regensburg, Volkswagen Fdn Jr Grp, D-93053 Regensburg, Germany

[3] Ctr Epilepsy Kork, Kehl, Germany

[4] Ctr Gynecol Endocrinol, Regensburg, Germany

[5] Ctr Prenatal Diag, Hamburg, Germany

来源：

NEUROLOGY | 2003年 / 61卷 / 02期

关键词：

D O I：

10.1212/01.WNL.0000079371.19562.BA

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：232 / 235

页数：4

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