Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly
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DOI: 10.1016/j.neuron.2020.01.027
Abstract: Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant… read more here.
Keywords: pathogenic variants; lis; lissencephaly; predominant ... See more keywords