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

2 Oct 2019

Abstract excerpt

BACKGROUND: 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. METHODS: We performed whole exome sequencing (WES) to identify new genes involved in this pathological phenotype. The regions of interest were...

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PMID: 31578829
DOI: 10.1002/mgg3.992

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