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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Bibliographische Detailangaben
Hauptverfasser: Kim, Se Hee, Lim, Byung Chan, Chae, Jong Hee, Kim, Ki Joong, Hwang, Yong Seung
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Korean Pediatric Society 2010
Schlagworte:
Case Report
Online Zugang: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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