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Copy number variations on chromosome 2: impact on human phenotype

Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases in particular neurodevelopmental disorders, behavioral problems, and skeletal abnormalities. Array comparative genomic hybridization (aCGH) constitute an added value for the diagnosis of these neurodevelopmental or neuropsychiatric diseases. This study aims to stablish a genotype-phenotype correlation, reporting CNVs i...