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

Authors :: Le Meur, N.
Holder-Espinasse, M.
Jaillard, S.
Goldenberg, A.
Joriot, S.
Amati-Bonneau, P.
Guichet, A.
charollais, A.
Journel, H.
Auvin, S.
Boucher, C.
Kerckaert, J.-P.
David, V.
Manouvrier-Hanu, S.
Saugier-Veber, P.
Frebourg, T.
Dubourg, C.
Andrieux, J.
Bonneau, D.
Source :: Journal of Medical Genetics. Jan, 2010, Vol. 47 Issue 1, p22, 8 p.
Publication Year :: 2010

Subjects :: Mental retardation -- Genetic aspects
Mental retardation -- Research
Epilepsy -- Genetic aspects
Epilepsy -- Research
Gene mutations -- Research
Comparative genomic hybridization -- Usage
Comparative genomic hybridization -- Research
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