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Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases
Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array comparativ...
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| Publicado no: | Case Rep Genet |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi Publishing Corporation
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4749774/ https://ncbi.nlm.nih.gov/pubmed/26942024 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/9790169 |
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