Article
Angelman syndrome: Mutations influence features in early childhood.
American journal of medical genetics. Part A - 1 Jan 2011
Tan Wen-Hann, Bacino Carlos A, Skinner Steven A, Anselm Irina, Barbieri-Welge Rene, Bauer-Carlin Astrid, Beaudet Arthur L, Bichell Terry Jo, Gentile Jennifer K, Glaze Daniel G, Horowitz Lucia T, Kothare Sanjeev V, Lee Hye-Seung, Nespeca Mark P, Peters Sarika U, Sahoo Trilochan, Sarco Dean, Waisbren Susan E, Bird Lynne M
Abstract excerpt
Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. Although the "classic" features of AS are well described, few large-scale studies have delineated the clinical features in AS. We present baseline data from 92 children with a molecular diagnosis of AS between 5 and 60 months old who are enrolled in the National Institutes of Health Rare Diseases...
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