CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

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Authors

Sébastien Chénier · Centre Hospitalier Universitaire de Sherbrooke

Grace Yoon · SickKids Foundation

Bob Argiropoulos · University of Calgary

Julie Lauzon · University of Calgary

Rachel Laframboise · Centre hospitalier universitaire de Québec

Joo Wook Ahn · Guy's and St Thomas' NHS Foundation Trust

Caroline Mackie Ogilvie

Abstract

The results of this study, in addition to our review of the literature, support a causative role of CHD2 haploinsufficiency in developmental delay, intellectual disability, epilepsy and behavioural problems, with phenotypic variability between individuals.

Topics & Keywords

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Chromatin Remodeling and Cancer

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Journal of Neurodevelopmental Disorders

Volume 6, Issue 1, pp. 9-9

DOI: 10.1186/1866-1955-6-9

Field-Weighted Citation Impact: 6.31