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A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry

1 Aug 2017

Abstract excerpt

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 trials for new therapies to treat AS. The Foundation for Angelman Therapeutics (FAST) Australia therefore identified a...

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PMID: 28764722
DOI: 10.1186/s13023-017-0686-1

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