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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Библиографические подробности
Опубликовано в: :Eur J Hum Genet
Главные авторы: Rossi, Massimiliano, Chatron, Nicolas, Labalme, Audrey, Ville, Dorothée, Carneiro, Maryline, Edery, Patrick, des Portes, Vincent, Lemke, Johannes R, Sanlaville, Damien, Lesca, Gaetan
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2017
Предметы:
Short Report
Online-ссылка: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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