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

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

Abstract 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 whol...

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Bibliographic Details
Main Authors: Jolyane Meloche, Vanessa Brunet, Pierre‐Alexandre Gagnon, Marie‐Ève Lavoie, Jean‐Benoît Bouchard, Javad Nadaf, Jacek Majewski, Charles Morin, Catherine Laprise
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
agenesis of the corpus callosum
DCLK2
exome sequencing
genetics
Online Access:https://doi.org/10.1002/mgg3.992

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https://doi.org/10.1002/mgg3.992

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