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Angelman syndrome (AS, MIM 105830)
Angelman syndrome (AS) is a distinct neurogenetic syndrome, first described in 1965. The phenotype is well known in infancy and adulthood, but the clinical features may change with age. The main clinical characteristics include severe mental retardation, epileptic seizures and EEG abnormalilties, ne...
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| Main Authors: | , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2009
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2986680/ https://ncbi.nlm.nih.gov/pubmed/19455185 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.67 |
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