Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5905005 | European Journal of Medical Genetics | 2012 | 5 Pages |
Abstract
⺠A child with intellectual disability and epilepsy is reported. ⺠Array CGH showed an interstitial deletion of 4.9 Mb from 21q22.13 to 21q22.3. ⺠Patients with the same deletion manifest a strikingly similar phenotype. ⺠Two genes, DYRK1 and KCNJ6, seem to play a major role in this phenotype.
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Authors
Angelo Valetto, Alessandro Orsini, Veronica Bertini, Benedetta Toschi, Alice Bonuccelli, Francesca Simi, Irene Sammartino, Grazia Taddeucci, Paolo Simi, Giuseppe Saggese,