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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PeerJ
Egile Nagusiak: Capkova, Zuzana, Capkova, Pavlina, Srovnal, Josef, Staffova, Katerina, Becvarova, Vera, Trkova, Marie, Adamova, Katerina, Santava, Alena, Curtisova, Vaclava, Hajduch, Marian, Prochazka, Martin
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: PeerJ Inc. 2019
Gaiak:
Genetics
Sarrera elektronikoa: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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