Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34012/fullpdf
Reference21 articles.
1. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray;Baldwin;Genet Med,2008
2. MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function;Barbosa;Proc Nat Acad Sci USA,2008
3. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion;Cardoso;Neurology,2009
4. Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation;Deprez;Hum Genet,2006
5. Interstitial deletion in the long arm of chromosome no 5;Harprecht-Beato;Clin Genet,1983
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