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
Autores principales: Capkova, Zuzana, Capkova, Pavlina, Srovnal, Josef, Staffova, Katerina, Becvarova, Vera, Trkova, Marie, Adamova, Katerina, Santava, Alena, Curtisova, Vaclava, Hajduch, Marian, Prochazka, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859875/
https://www.ncbi.nlm.nih.gov/pubmed/31741789
http://dx.doi.org/10.7717/peerj.7979

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859875/
https://www.ncbi.nlm.nih.gov/pubmed/31741789
http://dx.doi.org/10.7717/peerj.7979

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