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
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174049/
https://www.ncbi.nlm.nih.gov/pubmed/32168371
http://dx.doi.org/10.1093/brain/awaa051

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174049/
https://www.ncbi.nlm.nih.gov/pubmed/32168371
http://dx.doi.org/10.1093/brain/awaa051

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