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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Bibliografski detalji

Glavni autori:	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:	Artigo
Jezik:	Inglês
Izdano:	BMC 2018-01-01
Serija:	Molecular Autism
Teme:	Kleefstra syndrome EHTM1 Mosaicism Cognition Autism spectrum disorder Major depressive disorder
Online pristup:	http://link.springer.com/article/10.1186/s13229-018-0193-9
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