A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and aut...
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
In most patients with intellectual disability (ID), the etiology is unknown, but lately several de novo variants have been associated with ID. One of the involved genes, CUX2, has twice been reported to be affected by a de novo variant c.1768G>A; p.(Glu590Lys) in patients with ID or epileptic encephalopathy. CUX2 is expressed primarily in nervous t...
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Full title
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6117349
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6117349
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0184-5
