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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Detalles Bibliográficos
Autores principales: Kim, Se Hee, Lim, Byung Chan, Chae, Jong Hee, Kim, Ki Joong, Hwang, Yong Seung
Formato: Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994130/
https://www.ncbi.nlm.nih.gov/pubmed/21189944
http://dx.doi.org/10.3345/kjp.2010.53.6.718

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