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An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14)

✍ Scribed by Jaime Toral-López; Beatriz Buentello-Volante; Marta M. Balderas-Minor; Carmen Amezcua-Herrera; Juan M. Valdes-Miranda; Luz Ma. González-Huerta; Marco Gudiño; Sergio A. Cuevas-Covarrubias; Juan Carlos Zenteno

Book ID: 111995105
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 307 KB
Volume: 158A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35262

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## Abstract Recent studies have shown that haploinsufficiency of __MEF2C__ causes severe intellectual disability, epilepsy, hypotonia, and cerebral malformations. We report on a female patient with severe intellectual disability, early‐onset epileptic encephalopathy, and hypoplastic corpus callosum