MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
N Le Meur, M Holder-Espinasse, S Jaillard, A Goldenberg, S Joriot, P Amati-Bonneau, A Guichet, M Barth, A Charollais, H Journel, S Auvin, C Boucher, J-P Kerckaert, V David, S Manouvrier-Hanu, P Saugier-Veber, T Frébourg, C Dubourg, J Andrieux, D Bonneau
Journal of Medical Genetics Jan 2010, 47 (1) 22-29; DOI: 10.1136/jmg.2009.069732
