Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
About this item
Full title
Author / Creator
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Gudrun Rappold and colleagues report the identification of
de novo
deletions in
SHANK2
in two unrelated individuals. One individual was diagnosed with autism spectrum disorder and the other with mental retardation. The authors also identified a
de novo
nonsense mutation in an individual diagnosed with autism spectrum disorder.
...
Alternative Titles
Full title
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
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Record Identifier
TN_cdi_proquest_miscellaneous_746234019
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_746234019
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.589
