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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...
Zapisane w:
| Wydane w: | Eur J Hum Genet |
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| Główni autorzy: | , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Nature Publishing Group
2017
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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