Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2

Deletions of the 15q26 region encompassing the chromodomain helicase DNA binding domain 2 (CHD2) gene have been associated with intellectual disability, behavioral problems, and several types of epilepsy. Including the cases mentioned in ECARUCA (European cytogeneticists association register of unba...

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Detalles Bibliográficos
Autores principales: Verhoeven, Willem MA, Egger, Jos IM, Knegt, Alida C, Zuydam, José, Kleefstra, Tjitske
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869798/
https://www.ncbi.nlm.nih.gov/pubmed/27274247
http://dx.doi.org/10.2147/NDT.S102272

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869798/
https://www.ncbi.nlm.nih.gov/pubmed/27274247
http://dx.doi.org/10.2147/NDT.S102272

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