Redefining the Etiologic Landscape of Cerebellar Malformations.
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DOI: 10.1016/j.ajhg.2019.07.019
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… read more here.
Keywords: landscape cerebellar; non genetic; redefining etiologic; cerebellar malformations ... See more keywords