Article
Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.
Disease models & mechanisms - 1 Nov 2012
Blaker-Lee Alicia, Gupta Sunny, McCammon Jasmine M, De Rienzo Gianluca, Sive Hazel
Abstract excerpt
Deletion or duplication of one copy of the human 16p11.2 interval is tightly associated with impaired brain function, including autism spectrum disorders (ASDs), intellectual disability disorder (IDD) and other phenotypes, indicating the importance of gene dosage in this copy number variant region (CNV). The core of this CNV includes 25 genes; however, the number of genes that contribute to these phenotypes is...
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