Angelman syndrome due to a termination codon mutation of the UBE3A gene.

Abstract excerpt

Angelman syndrome is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, seizures, microcephaly, and severe speech delay. It may be caused by deletion of chromosome region 15q11.2 of the maternally inherited chromosome, mutations in the UBE3A gene, uniparental disomy, or imprinting defects. Most patients with this diagnosis have a severe phenotype, and a few have a mild...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Angelman Syndrome
• Share to Child, Preschool