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Another piece of the autism puzzle

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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Figure 1: Molecular network at the synapse includes molecules implicated in social disability.

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Correspondence to Matthew W State.

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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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