Redefining the Etiologic Landscape of Cerebellar Malformations.
Abstract
Cerebellar malformations are diverse congenital anomalies frequently associated with developmental disability. Although genetic and prenatal non-genetic causes have been described, no systematic analysis has been performed. Here, we present a large-exome sequencing study of Dandy-Walker malformation (DWM) and cerebellar hypoplasia (CBLH). We performed exome sequencing in 282 individuals from 100 families with DWM or CBLH, and we established a...
Paper Details
Title
Redefining the Etiologic Landscape of Cerebellar Malformations.
Published Date
Sep 5, 2019
Volume
105
Issue
3
Pages
606 - 615
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