Article
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.
Journal of developmental and behavioral pediatrics : JDBP - 1 Sept 2010
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
Abstract excerpt
OBJECTIVE: Angelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion on chromosome 15, uniparental disomy, imprinting defect, or UBE3A mutation. It is characterized by intellectual disability with minimal speech and certain behavioral characteristics. We used standardized measures to characterize the developmental profile and to analyze genotype-phenotype correlations in AS. METHOD: The study...
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