Duplications at 19q13.33 in patients with neurodevelopmental disorders

OBJECTIVE: After the recent publication of the first patients with disease-associated missense variants in the GRIN2D gene, we evaluate the effect of copy number variants (CNVs) overlapping this gene toward the presentation of neurodevelopmental disorders (NDDs). METHODS: We explored ClinVar (number...

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Detalles Bibliográficos
Autores principales: Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820601/
https://www.ncbi.nlm.nih.gov/pubmed/29473046
http://dx.doi.org/10.1212/NXG.0000000000000210

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820601/
https://www.ncbi.nlm.nih.gov/pubmed/29473046
http://dx.doi.org/10.1212/NXG.0000000000000210

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