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

Authors
 Se Hee Kim  ;  Byung Chan Lim  ;  Jong Hee Chae  ;  Ki Joong Kim  ;  Yong Seung Hwang 
Citation
 Korean Journal of Pediatrics, Vol.53(6) : 718-721, 2010 
Journal Title
 Korean Journal of Pediatrics 
ISSN
 1738-1061 
Issue Date
2010
Keywords
Arnold-Chiari malformation ; CREB-binding protein ; Mutation ; Rubinstein-Taybi syndrome
Abstract
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 patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood to be associated with cell growth and proliferation. Here, we describe a typical RTS patient with Arnold-Chiari malformation. A mutation in the CREBBP gene, c.4944_4945insC, was identified by mutational analysis.
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DOI
10.3345/kjp.2010.53.6.718
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Se Hee(김세희) ORCID logo https://orcid.org/0000-0001-7773-1942
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/158120
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