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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Neuropsychiatr Dis Treat
Egile Nagusiak: Verhoeven, Willem MA, Egger, Jos IM, Knegt, Alida C, Zuydam, José, Kleefstra, Tjitske
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Dove Medical Press 2016
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4869798/
https://ncbi.nlm.nih.gov/pubmed/27274247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/NDT.S102272
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