The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermi...
The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions
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Switzerland: Frontiers Research Foundation
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Language
English
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Switzerland: Frontiers Research Foundation
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Contents
Synaptic gene conditions, i.e., “synaptopathies,” involve disruption to genes expressed at the synapse and account for between 0.5 and 2% of autism cases. They provide a unique entry point to understanding the molecular and biological mechanisms underpinning autism-related phenotypes. Phelan-McDermid Syndrome (PMS, also known as 22q13 deletion synd...
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Full title
The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions
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TN_cdi_proquest_journals_2630412866
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2630412866
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ISSN
1662-453X,1662-4548
E-ISSN
1662-453X
DOI
10.3389/fnins.2022.806990
