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Analysis of a purported SHANK3 mutation in a boy with autism: Clinical impact of rare variant research in neurodevelopmental disabilities

  • Published:2011-03 Issue: Volume:1380 Page:98-105
  • ISSN:0006-8993
  • Container-title:Brain Research
  • language:en
  • Short-container-title:Brain Research

Author:

Kolevzon Alexander,Cai Guiqing,Soorya Latha,Takahashi Nagahide,Grodberg David,Kajiwara Yuji,Willner Judith P.,Tryfon Ana,Buxbaum Joseph D.

Funder

Seaver Foundation

Simons Foundation

Publisher

Elsevier BV

Subject

Developmental Biology,Clinical Neurology,Molecular Biology,General Neuroscience

Reference30 articles.

1. Diagnostic and statistical manual of mental disorders;American Psychiatric Association,1994

2. Therapeutic implications of the mGluR theory of fragile X mental retardation;Bear;Genes Brain Behav.,2005

3. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation;Berkel;Nat. Genet.,2010

4. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders;Betancur;Trends Neurosci.,2009

5. The postsynaptic density;Boeckers;Cell Tissue Res.,2006
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