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

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 defect...

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Detalles Bibliográficos
Autores principales: de Boer, Anneke, Vermeulen, Karlijn, Egger, Jos I. M., Janzing, Joost G. E., de Leeuw, Nicole, Veenstra-Knol, Hermine E., den Hollander, Nicolette S., van Bokhoven, Hans, Staal, Wouter, Kleefstra, Tjitske
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784506/
https://www.ncbi.nlm.nih.gov/pubmed/29416845
http://dx.doi.org/10.1186/s13229-018-0193-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784506/
https://www.ncbi.nlm.nih.gov/pubmed/29416845
http://dx.doi.org/10.1186/s13229-018-0193-9

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