Article
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Neurogenetics - 1 Nov 2011
van Daalen Emma, Kemner Chantal, Verbeek Nienke E, van der Zwaag Bert, Dijkhuizen Trijnie, Rump Patrick, Houben Renske, van 't Slot Ruben, de Jonge Maretha V, Staal Wouter G, Beemer Frits A, Vorstman Jacob A S, Burbach J Peter H, van Amstel Hans Kristian Ploos, Hochstenbach Ron, Brilstra Eva H, Poot Martin
Abstract excerpt
Recent array-based studies have detected a wealth of copy number variations (CNVs) in patients with autism spectrum disorders (ASD). Since CNVs also occur in healthy individuals, their contributions to the patient's phenotype remain largely unclear. In a cohort of children with symptoms of ASD, diagnosis of the index patient using ADOS-G and ADI-R was performed, and the Social Responsiveness Scale (SRS) was...
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