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Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
SCN2A mutations are primarily associated with a variety of epilepsy syndromes. Recently, SCN2A has been reported as a gene responsible for nonsyndromic intellectual disability or autism spectrum disorders. Here, we present a case of a 12-year-old girl with nonsyndromic intellectual disability who ex...
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| Publicado no: | Hum Genome Var |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6054605/ https://ncbi.nlm.nih.gov/pubmed/30062040 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0019-5 |
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