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Article

Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping.

Journal of applied genetics - 1 May 2018

Lovrečić Luca, Rajar Polona, Volk Marija, Bertok Sara, Gnidovec Stražišar Barbara, Osredkar Damjan, Jekovec Vrhovšek Maja, Peterlin Borut

Abstract excerpt

Autism spectrum disorder (ASD) is a group of the neurodevelopment disorders presenting as an isolated ASD or more complex forms, where a broader clinical phenotype comprised of developmental delay and intellectual disability is present. Both the isolated and complex forms have a significant causal genetic component and submicroscopic genomic copy number variations (CNV) are the most common identifiable genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29564645
DOI: 10.1007/s13353-018-0440-y

Genes

CADPS2
SNTG2

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