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Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
Recently, haploinsufficiency of PURA has been identified as an essential cause of 5q31.3 microdeletion syndrome, which is characterized by severe psychomotor developmental delay, epilepsy, distinctive features, and delayed myelination. A new 5q31.2-q31.3 microdeletion that included PURA was identifi...
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| Publicado no: | Hum Genome Var |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5874397/ https://ncbi.nlm.nih.gov/pubmed/29619234 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2018.7 |
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