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

ConclusionAlthough no common genetic defect was observed in this study, we provide evidence for new avenues of investigation for ACC, such as molecular pathways involvingHERC2,CACNA1A,KCNH3, and more importantlyDCLK2. We also allowed to diagnose an individual with mucolipidosis type IV.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.992?af=R

Source: Molecular Genetics & Genomic Medicine - October 1, 2019 Category: Genetics & Stem Cells Authors: Jolyane Meloche, Vanessa Brunet, Pierre ‐Alexandre Gagnon, Marie‐Ève Lavoie, Jean‐Benoît Bouchard, Javad Nadaf, Jacek Majewski, Charles Morin, Catherine Laprise Tags: CLINICAL REPORT Source Type: research