Article
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
Human genetics - 1 Oct 2011
Gauthier Julie, Siddiqui Tabrez J, Huashan Peng, Yokomaku Daisaku, Hamdan Fadi F, Champagne Nathalie, Lapointe Mathieu, Spiegelman Dan, Noreau Anne, Lafrenière Ronald G, Fathalli Ferid, Joober Ridha, Krebs Marie-Odile, DeLisi Lynn E, Mottron Laurent, Fombonne Eric, Michaud Jacques L, Drapeau Pierre, Carbonetto Salvatore, Craig Ann Marie, Rouleau Guy A
Abstract excerpt
Growing genetic evidence is converging in favor of common pathogenic mechanisms for autism spectrum disorders (ASD), intellectual disability (ID or mental retardation) and schizophrenia (SCZ), three neurodevelopmental disorders affecting cognition and behavior. Copy number variations and deleterious mutations in synaptic organizing proteins including NRXN1 have been associated with these neurodevelopmental...
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