Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study
JOURNAL OF PEDIATRIC RESEARCH, vol.8, no.3, pp.297-302, 2021 (ESCI, Scopus, TRDizin)
- Publication Type: Article / Article
- Volume: 8 Issue: 3
- Publication Date: 2021
- Doi Number: 10.4274/jpr.galenos.2021.10179
- Journal Name: JOURNAL OF PEDIATRIC RESEARCH
- Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Page Numbers: pp.297-302
- Keywords: Williams-Beuren syndrome, 7q11.23 deletion, supravalvular aortic stenosis, pulmonary stenosis, intellectual disability
- Dokuz Eylül University Affiliated: Yes
Abstract
Aim: Williams-Beuren syndrome, which is characterized by dysmorphic facial features, cardiovascular findings, intellectual disability, endocrine abnormalities and a typical cognitive profile, is caused by a microdeletion in the 7q11.23 region. In this study, we aimed to evaluate the dysmorphic and clinical manifestations of patients with Williams-Beuren syndrome.