Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay epilepsy and microcephaly

摘要

This study reports the genetic features of four Caucasian males from the Saguenay‒Lac‐St‐Jean region affected by partial agenesis of the corpus callosum (ACC) with hypotonia, epilepsy, developmental delay, microcephaly, hypoplasia, and autistic behavior.