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

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

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...

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Bibliographic Details
Main Authors: Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang
Format: Article
Language:English
Published: Korean Pediatric Society 2010-06-01
Series:Korean Journal of Pediatrics
Subjects:
Rubinstein-Taybi syndrome
Mutation
Arnold-Chiari malformation
Online Access:http://kjp.or.kr/upload/pdf/kjped-53-718.pdf

Internet

http://kjp.or.kr/upload/pdf/kjped-53-718.pdf

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