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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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Detalhes bibliográficos
Main Authors: Kim, Se Hee, Lim, Byung Chan, Chae, Jong Hee, Kim, Ki Joong, Hwang, Yong Seung
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Pediatric Society 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2994130/
https://ncbi.nlm.nih.gov/pubmed/21189944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2010.53.6.718
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