Article
Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.
Developmental medicine and child neurology - 1 Jun 2020
Spencer-Smith Megan, Knight Jacquelyn L, Lacaze Emmanuelle, Depienne Christel, Lockhart Paul J, Richards Linda J, Heron Delphine, Leventer Richard J, Robinson Gail A
Abstract excerpt
Pathogenic variants in the gene encoding deleted in colorectal cancer (DCC) are the first genetic cause of isolated agenesis of the corpus callosum (ACC). Here we present the detailed neurological, brain magnetic resonance imaging (MRI), and neuropsychological characteristics of 12 individuals from three families with pathogenic variants in DCC (aged 8-50y), who showed ACC and mirror movements (n=5), mirror...
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