Article
Clinical aspects of a large group of adults with Angelman syndrome.
American journal of medical genetics. Part A - 1 Jan 2021
den Besten Inge, de Jong Rianne F, Geerts-Haages Amber, Bruggenwirth Hennie T, Koopmans Marije, Brooks Alice, Elgersma Ype, Festen Dederieke A M, Valstar Marlies J
Abstract excerpt
Descriptions of the clinical features of Angelman syndrome (AS) have mainly been focused on children. Here, we describe the evolution of the clinical phenotypes of AS in adulthood, using clinical data from 95 individuals (mean age 31.6 years, median 29.0 years, range 18-83 years), with genetically confirmed AS. Data was collected through physical examination and inspection of medical records, combined with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.