ARX mutations in X-linked lissencephaly with abnormal genitalia.
case_series · Level IV
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- Record sourced from PubMed, PMID 12874405.
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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.
Medical subject headings
- Abnormalities, Multiple
- Cerebral Cortex
- Genitalia, Male
- Homeodomain Proteins
- X-Linked Intellectual Disability
- Point Mutation
- Transcription Factors