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

Napier, KR; Tones, M; Simons, C; Heussler, H; Hunter, AA; Cross, M; Bellgard, MI

Bellgard, MI (reprint author), Murdoch Univ, Ctr Comparat Genom, Perth, WA 6150, Australia.

ORPHANET JOURNAL OF RARE DISEASES, 2017; 12 ( ):

Abstract

Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epil......

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