Wird geladen...

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
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
Schlagworte:
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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!