De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any...

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Detalles Bibliográficos
Autores principales: Popp, Bernt, Støve, Svein I, Endele, Sabine, Myklebust, Line M, Hoyer, Juliane, Sticht, Heinrich, Azzarello-Burri, Silvia, Rauch, Anita, Arnesen, Thomas, Reis, André
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402627/
https://www.ncbi.nlm.nih.gov/pubmed/25099252
http://dx.doi.org/10.1038/ejhg.2014.150

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402627/
https://www.ncbi.nlm.nih.gov/pubmed/25099252
http://dx.doi.org/10.1038/ejhg.2014.150

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