A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic de novo variants. Epidemiological disease estimates are not available for the vast majority of these de novo monogenic neurodevelopmental disorders because of phenotypic heterogeneity and the absence of large-sca...

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Detalles Bibliográficos
Publicado en:Brain
Main Authors: López-Rivera, Javier A, Pérez-Palma, Eduardo, Symonds, Joseph, Lindy, Amanda S, McKnight, Dianalee A, Leu, Costin, Zuberi, Sameer, Brunklaus, Andreas, Møller, Rikke S, Lal, Dennis
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2020
Assuntos:
Reports
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7174049/
https://ncbi.nlm.nih.gov/pubmed/32168371
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awaa051
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