[Angelman syndrome: clinical and genetic model].

Abstract excerpt

Angelman syndrome is a neurogenetic disorder characterized by developmental delay, absence of speech, motor impairment, epilepsy and a peculiar behavioural phenotype associated with abnormalities of chromosome 15q11-13. Precise diagnosis carries clinical and genetic counseling implications. However, many clinicians still seem unfamiliar with it despite the severity and typical aspects of presentation. Beyond...

Topics

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

• Share to Electroencephalography
• Share to Ligases
• Share to Mental Disorders