Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy

We report on two consanguineous sibs affected with severe intellectual disability and autistic features due to a homozygous missense variant of GRIN1. Massive parallel sequencing was performed using a gene panel including 450 genes related to intellectual disability and autism spectrum disorders. We...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Rossi, Massimiliano, Chatron, Nicolas, Labalme, Audrey, Ville, Dorothée, Carneiro, Maryline, Edery, Patrick, des Portes, Vincent, Lemke, Johannes R, Sanlaville, Damien, Lesca, Gaetan
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5315503/
https://ncbi.nlm.nih.gov/pubmed/28051072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.163
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