Ontology highlight
ABSTRACT:
SUBMITTER: Kruszka P
PROVIDER: S-EPMC6007881 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20180501 5
Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender ...[more]