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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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ARX mutations in X- linked lissencephaly with abnormal genitalia.

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.[1]

References

  1. ARX mutations in X-linked lissencephaly with abnormal genitalia. Uyanik, G., Aigner, L., Martin, P., Gross, C., Neumann, D., Marschner-Schäfer, H., Hehr, U., Winkler, J. Neurology (2003) [Pubmed]
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