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

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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,… Click to show full abstract

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.

Keywords: developmental delay; corpus callosum; study; agenesis corpus; partial agenesis

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019

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