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. Howe...

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Bibliografiske detaljer
Udgivet i:PeerJ
Main Authors: Capkova, Zuzana, Capkova, Pavlina, Srovnal, Josef, Staffova, Katerina, Becvarova, Vera, Trkova, Marie, Adamova, Katerina, Santava, Alena, Curtisova, Vaclava, Hajduch, Marian, Prochazka, Martin
Format: Artigo
Sprog:Inglês
Udgivet: PeerJ Inc. 2019
Fag:
Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6859875/
https://ncbi.nlm.nih.gov/pubmed/31741789
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7717/peerj.7979
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