Article ID Journal Published Year Pages File Type
5905005 European Journal of Medical Genetics 2012 5 Pages PDF
Abstract
► A child with intellectual disability and epilepsy is reported. ► Array CGH showed an interstitial deletion of 4.9 Mb from 21q22.13 to 21q22.3. ► Patients with the same deletion manifest a strikingly similar phenotype. ► Two genes, DYRK1 and KCNJ6, seem to play a major role in this phenotype.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Authors
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