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Article

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Nature genetics - 1 Jun 2010

Berkel Simone, Marshall Christian R, Weiss Birgit, Howe Jennifer, Roeth Ralph, Moog Ute, Endris Volker, Roberts Wendy, Szatmari Peter, Pinto Dalila, Bonin Michael, Riess Angelika, Engels Hartmut, Sprengel Rolf, Scherer Stephen W, Rappold Gudrun A

Abstract excerpt

Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases,...

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Identifiers

PMID: 20473310
DOI: 10.1038/ng.589

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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