TY  - GEN
AU  - Zweier,Markus
AU  - Gregor,Anne
AU  - Zweier,Christiane
AU  - Engels,Hartmut
AU  - Sticht,Heinrich
AU  - Wohlleber,Eva
AU  - Bijlsma,Emilia K
AU  - Holder,Susan E
AU  - Zenker,Martin
AU  - Rossier,Eva
AU  - Grasshoff,Ute
AU  - Johnson,Diana S
AU  - Robertson,Lisa
AU  - Firth,Helen V
AU  - Ekici,Arif B
AU  - Reis,André
AU  - Rauch,Anita
TI  - Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
SN  - 1098-1004
PY  - 2010///0927
KW  - Adolescent
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 5
KW  - genetics
KW  - DNA
KW  - chemistry
KW  - DNA Mutational Analysis
KW  - Female
KW  - Gene Deletion
KW  - Gene Expression Regulation
KW  - Humans
KW  - Intellectual Disability
KW  - Karyotyping
KW  - Luciferases
KW  - MADS Domain Proteins
KW  - MEF2 Transcription Factors
KW  - Male
KW  - Models, Molecular
KW  - Mutation, Missense
KW  - Myogenic Regulatory Factors
KW  - Promoter Regions, Genetic
KW  - Protein Binding
KW  - Protein Serine-Threonine Kinases
KW  - Protein Structure, Tertiary
KW  - Recombinant Fusion Proteins
KW  - Syndrome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.21253
ER  -