Open AccessPaternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype–Case Report and Literature Review
Author(s) -
Krzysztof SzczaÅuba,
Ilona Jaszczuk,
Monika Lejman,
Agata Makarewicz,
Renata Koncewicz,
Urszula Demkow
Publication year - 2016
Publication title -
autism-open access
Language(s) - English
Resource type - Journals
ISSN - 2165-7890
DOI - 10.4172/2165-7890.1000182
Subject(s) - angelman syndrome , genetics , phenotype , ube3a , autism , genomic imprinting , imprinting (psychology) , biology , psychology , developmental psychology , gene , dna methylation , ubiquitin ligase , gene expression , ubiquitin