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A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is currently no cure for AS, though several pharmaceutical companies are anticipating drug trial...
Autores principales: | Napier, Kathryn R., Tones, Megan, Simons, Chloe, Heussler, Helen, Hunter, Adam A., Cross, Meagan, Bellgard, Matthew I. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540301/ https://www.ncbi.nlm.nih.gov/pubmed/28764722 http://dx.doi.org/10.1186/s13023-017-0686-1 |
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