Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents

Recurrent copy number variations (CNVs) are common causes of neurodevelopmental disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at defined genomic regions that are particularly prone to recurrent deletions and duplications and often exhibit variable expressivity...

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Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Smajlagić, Dinka, Lavrichenko, Ksenia, Berland, Siren, Helgeland, Øyvind, Knudsen, Gun Peggy, Vaudel, Marc, Haavik, Jan, Knappskog, Per Morten, Njølstad, Pål Rasmus, Houge, Gunnar, Johansson, Stefan
Format: Artigo
Langue:Inglês
Publié: Springer International Publishing 2020
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7852900/
https://ncbi.nlm.nih.gov/pubmed/32778765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00707-7
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