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...

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Detalles Bibliográficos
Autores principales: Napier, Kathryn R., Tones, Megan, Simons, Chloe, Heussler, Helen, Hunter, Adam A., Cross, Meagan, Bellgard, Matthew I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Letter to the Editor
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

Internet

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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