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
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S. Auvin | T. Frebourg | N. Le Meur | D. Bonneau | P. Amati‐Bonneau | J. Andrieux | N. Meur | M. Barth | H. Journel | A. Goldenberg | A. Guichet | C. Dubourg | S. Jaillard | P. Saugier-Veber | J. Kerckaert | C. Boucher | V. David | A. Charollais | S. Manouvrier-Hanu | S. Joriot | Cécile Boucher | M. Holder‐Espinasse