Article
Angelman syndrome revisited.
The neurologist - 1 Sept 2007
Paprocka Justyna, Jamroz Ewa, Szwed-Białozyt Barbara, Jezela-Stanek Aleksandra, Kopyta Ilona, Marszał Elzbieta
Abstract excerpt
OBJECTIVES: Angelman syndrome (AS) is characterized by severe mental retardation, epilepsy, absent speech, dysmorphic facial features, and a characteristic behavioral phenotype. It is caused by deficiency of gene expression from maternally derived chromosome 15q11-q13. STUDY DESIGN: The authors present the clinical picture of 9 children (median age, 4.9 years; range, 1 to 10 years) with confirmed Angelman...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.