Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

Published 2016 View Full Article

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Title
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation
Authors
Keywords
Neurodevelopmental disorders, Epilepsy, Next generation sequencing, Copy number variants re-evaluation
Journal
BRAIN & DEVELOPMENT
Volume 38, Issue 6, Pages 590-596
Publisher
Elsevier BV
Online
2016-01-03
DOI
10.1016/j.braindev.2015.12.006

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