A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation

• Main Authors: Se Hee Kim (Author), Byung Chan Lim (Author), Jong Hee Chae (Author), Ki Joong Kim (Author), Yong Seung Hwang (Author)
• 格式: 圖書
• 出版: Korean Pediatric Society, 2010-06-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the...