Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
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DOI: 10.1212/nxg.0000000000000558
Abstract: Objective We aimed to identify pathogenic variants in a girl with epilepsy, developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities with the use of whole-exome sequencing. Methods Whole-exome trio analysis and molecular… read more here.
Keywords: variants associated; exome sequencing; associated mild; dab1 variants ... See more keywords