EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction

Abstract Background Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic...

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Bibliographic Details
Main Authors: Anneke de Boer, Karlijn Vermeulen, Jos I. M. Egger, Joost G. E. Janzing, Nicole de Leeuw, Hermine E. Veenstra-Knol, Nicolette S. den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra
Format: Article
Language:English
Published: BMC 2018-01-01
Series:Molecular Autism
Subjects:
Kleefstra syndrome
EHTM1
Mosaicism
Cognition
Autism spectrum disorder
Major depressive disorder
Online Access:http://link.springer.com/article/10.1186/s13229-018-0193-9

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