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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Detalles Bibliográficos
Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: PeerJ Inc. 2019
Assuntos:
Genetics
Acceso en liña: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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