Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. [electronic resource]
- Human mutation Jun 2010
- 722-33 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.21253 doi
Adolescent Base Sequence Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 5--genetics DNA--chemistry DNA Mutational Analysis Female Gene Deletion Gene Expression Regulation Humans Intellectual Disability--genetics Karyotyping Luciferases--genetics MADS Domain Proteins--chemistry MEF2 Transcription Factors Male Models, Molecular Mutation, Missense Myogenic Regulatory Factors--chemistry Promoter Regions, Genetic--genetics Protein Binding Protein Serine-Threonine Kinases--genetics Protein Structure, Tertiary Recombinant Fusion Proteins--genetics Syndrome