Williams syndrome and the Elastin gene in Thai patients

• Main Authors: Nichara Ruangdaraganon, Chintana Tocharoentanaphol, Nittaya Kotchabhakdi, Pongsak Khowsathit
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/25745

Williams syndrome (WS) has long been known as a complex disorder of dysmorphic facial features, described as elfin face, mental retardation or learning disability, loquacious personality, and supravalvular aortic stenosis. The etiology is now known to be due to deletion of the elastin gene (ELN) on...