Article
Comprehensive EMX2 genotyping of a large schizencephaly case series.
American journal of medical genetics. Part A - 15 Jun 2007
Tietjen Ian, Bodell Adria, Apse Kira, Mendonza Ashley M, Chang Bernard S, Shaw Gary M, Barkovich A James, Lammer Edward J, Walsh Christopher A
Abstract excerpt
Schizencephaly is a brain malformation disorder characterized by one or more full-thickness clefts through the cerebral cortex. While initial reports suggested that EMX2 mutations are a common cause of schizencephaly, more recent evidence suggests that EMX2 mutations are not a common cause of this malformation. To determine the frequency of EMX2 mutations in patients with schizencephaly, we sequenced EMX2 in a...
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