Article
Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.
Human molecular genetics - 15 Oct 2017
Copping Nycole A, Christian Sarah G B, Ritter Dylan J, Islam M Saharul, Buscher Nathalie, Zolkowska Dorota, Pride Michael C, Berg Elizabeth L, LaSalle Janine M, Ellegood Jacob, Lerch Jason P, Reiter Lawrence T, Silverman Jill L, Dindot Scott V
Abstract excerpt
Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of the most common and penetrant chromosomal abnormalities observed in individuals with autism spectrum disorder (ASD). Although ∼40 genes are located in the...
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