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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2010
Konular:
Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller