A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33891/fullpdf
Reference24 articles.
1. Cell-cell interactions in synaptogenesis;Akins;Curr Opin Neurobiol,2006
2. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation;Aldinger;Nat Genet,2009
3. Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers;Arens;Am J Med Genet Part A,2004
4. Neuregulin 1-erbB4 pathway in schizophrenia: From genes to an interactome;Banerjee;Brain Res Bull,2010
5. Generation and characterization of neuregulin-2-deficient mice;Britto;Mol Cell Biol,2004
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