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• W1993313160 abstract "X-linked isolated lissencephaly sequence (ILS) and subcortical band heterotopia are allelic human disorders associated with mutations of the <i>DCX</i> gene in both familial and sporadic forms. The authors describe a large Sardinian family in which three brothers with ILS have a missense mutation of the <i>DCX</i> gene. Their mother, a nonmosaic carrier, has a normal phenotype and cranial MRI. Skewed X-inactivation in the lymphocytes was also ruled out. This is the first report of an asymptomatic carrier of a <i>DCX</i> mutation likely due to apparent nonpenetrance." @default.
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• W1993313160 date "2001-07-24" @default.
• W1993313160 modified "2023-09-26" @default.
• W1993313160 title "Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene" @default.
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• W1993313160 doi "https://doi.org/10.1212/wnl.57.2.327" @default.
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