A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations

OBJECTIVE: Angelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion on chromosome 15, uniparental disomy (UPD), imprinting defect, or UBE3A mutation. It is characterized by intellectual disability with minimal speech and certain behavioral characteristics. We used standardized me...

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Hauptverfasser: Gentile, Jennifer K., Tan, Wen-Hann, Horowitz, Lucia T., Bacino, Carlos A., Skinner, Steven A., Barbieri-Welge, Rene, Bauer-Carlin, Astrid, Beaudet, Arthur L., Bichell, Terry Jo, Lee, Hye-Seung, Sahoo, Trilochan, Waisbren, Susan E., Bird, Lynne M., Peters, Sarika U.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2010
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2997715/
https://ncbi.nlm.nih.gov/pubmed/20729760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/DBP.0b013e3181ee408e
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