Angelman Syndrome: Mutations Influence Features in Early Childhood

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 molecu...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3563320/
https://ncbi.nlm.nih.gov/pubmed/21204213
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33775
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados