Refining the phenotype associated with MEF2C point mutations

Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome

(2012) Roksana Armani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo microdeletion of 5q14.3 excludingMEF2Cin a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum

(2012) Keiko Shimojima et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy

(2011) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

(2010) Markus Zweier et al.   HUMAN MUTATION

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

(2009) Hartmut Engels et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

(2008) C. Cardoso et al.   NEUROLOGY