Angelman syndrome: Mutations influence features in early childhood.
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ABSTRACT:
SUBMITTER: Tan WH
PROVIDER: S-EPMC3563320 | biostudies-literature | 2011 Jan
REPOSITORIES: biostudies-literature
Publications
Angelman syndrome: Mutations influence features in early childhood.
Tan Wen-Hann WH Bacino Carlos A CA Skinner Steven A SA Anselm Irina I Barbieri-Welge Rene R Bauer-Carlin Astrid A Beaudet Arthur L AL Bichell Terry Jo TJ Gentile Jennifer K JK Glaze Daniel G DG Horowitz Lucia T LT Kothare Sanjeev V SV Lee Hye-Seung HS Nespeca Mark P MP Peters Sarika U SU Sahoo Trilochan T Sarco Dean D Waisbren Susan E SE Bird Lynne M LM
American journal of medical genetics. Part A 20110101 1
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 Clinical Research Network Angelman Syndrome Natural History Study from January 2006 ...[more]
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