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

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...

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Detalles Bibliográficos
Autores principales: Meloche, Jolyane, Brunet, Vanessa, Gagnon, Pierre‐Alexandre, Lavoie, Marie‐Ève, Bouchard, Jean‐Benoît, Nadaf, Javad, Majewski, Jacek, Morin, Charles, Laprise, Catherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978259/
https://www.ncbi.nlm.nih.gov/pubmed/31578829
http://dx.doi.org/10.1002/mgg3.992

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