A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability.
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State, M. Another piece of the autism puzzle. Nat Genet 42, 478–479 (2010). https://doi.org/10.1038/ng0610-478
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DOI: https://doi.org/10.1038/ng0610-478
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