Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Abstract
Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2-whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In...
Paper Details
Title
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Published Date
Oct 15, 2019
Journal
Volume
10
Issue
1
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