Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients

Background Autism spectrum disorders (ASD) and intellectual disabilities (ID) are heterogeneous and complex developmental diseases with significant genetic backgrounds and overlaps of genetic susceptibility loci. Copy number variants (CNVs) are known to be frequent causes of these impairments. Howev...

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Bibliographic Details
Main Authors: Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch, Martin Prochazka
Format: Article
Language:English
Published: PeerJ Inc. 2019-11-01
Series:PeerJ
Subjects:
ADHD
Intellectual disabilities
CNV
Epilepsy
Microcephaly
Growth defects
Online Access:https://peerj.com/articles/7979.pdf

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https://peerj.com/articles/7979.pdf

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