Article
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
European journal of human genetics : EJHG - 1 Mar 2013
Boccuto Luigi, Lauri Maria, Sarasua Sara M, Skinner Cindy D, Buccella Daniela, Dwivedi Alka, Orteschi Daniela, Collins Julianne S, Zollino Marcella, Visconti Paola, Dupont Barb, Tiziano Danilo, Schroer Richard J, Neri Giovanni, Stevenson Roger E, Gurrieri Fiorella, Schwartz Charles E
Abstract excerpt
Autism spectrum disorders (ASDs) include three main conditions: autistic disorder (AD), pervasive developmental disorder, not otherwise specified (PDD-NOS), and Asperger syndrome. It has been shown that many genes associated with ASDs are involved in the neuroligin-neurexin interaction at the glutamate synapse: NLGN3, NLGN4, NRXN1, CNTNAP2, and SHANK3. We screened this last gene in two cohorts of ASD patients...
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