Refining the phenotype associated withMEF2Chaploinsufficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01413.x/fullpdf
Reference9 articles.
1. MEF2C haploinsufficiency caused either by microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.;Le Meur;J Med Genet,2009
2. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.;Cardoso;Neurology,2009
3. A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.;Engels;Eur J Human Genetics,2009
4. Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo;Li;Proc Natl Acad Sci U S A,2008
5. MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function;Barbosa;Proc Natl Acad Sci U S A,2008
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