title: Clinical utility gene card for: Angelman Syndrome.
authors.affiliation: Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
authors.forename: Karin
authors.initials: K
authors.lastname: Buiting
authors.affiliation: Manchester Centre For Genomic Medicine, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
authors.affiliation: Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Driscoll
authors.affiliation: Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.affiliation: Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
authors.forename: Deniz
authors.initials: D
authors.lastname: Kanber
authors.affiliation: Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schwinger
authors.affiliation: Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.
authors.forename: Charles
authors.initials: C
authors.lastname: Williams
authors.affiliation: Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Horsthemke
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D011296:Prenatal Diagnosis; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases