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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.
Author / Organization: Nathalie Le Meur, Muriel Holder-Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati-Bonneau, Agnès Guichet, Magalie Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, Jean-Pierre Kerckaert, Véronique David, Sylvie Manouvrier-Hanu, Pascale Saugier-Veber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, Dominique Bonneau
| File Format | PDF (Portable Document Format) |
|---|---|
| Publication Year | 2010 |
| Source Host |
HAL Open Science
(hal.science)
|
| License / Terms | Open Access / Creative Commons |
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