Correlating UBE3A enzyme activity with clinical severity in Angelman syndrome
Back to course
Pdf Summary
Asset Subtitle
Presenting Author - Bhavana Ambil, BS; Co-Author - Jalin Stelzer, BS; Co-Author - Wen-Hann Tan, BMBS; Co-Author - Jason Yi, PhD; Co-Author - Elizabeth R. Jalazo, MD;
Meta Tag
Brain/Nervous System
Chromosomal Abnormalities
Chromosome Structure/Function
Cognitive Disorders
Etiology
Gene Localization
Genome sequencing
Genotype-Phenotype Correlations
Inheritance Patterns
Intellectual disability
Pathogenesis
Structure/Function
Variant Detection
Co-Author Jalin Stelzer, BS
Co-Author Wen-Hann Tan, BMBS
Co-Author Jason Yi, PhD
Co-Author Elizabeth R. Jalazo, MD
Presenting Author Bhavana Ambil, BS
Keywords
Angelman syndrome
genetic disorder
intellectual disability
speech impairment
seizures
microcephaly
UBE3A gene
clinical severity
enzyme activity
missense variants

© 2024 American College of Medical Genetics and Genomics. All rights reserved.

Powered By