Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: two distinct genetic diseases located on chromosome 16p13.3.

Rubinstein-Taybi syndrome (RTS) is characterized by typical facies, short stature, mental retardation, broad thumbs and broad great toes. The syndrome is at least in part caused by microdeletions at chromosome 16p13.3 or by mutations in the gene for the CREB binding protein (CBP), which is located a...

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Hauptverfasser: Kalyoncu, Umut, Tufan, Abdurrahman, Karadag, Omer, Kisacik, Bunyamin, Akdogan, Ali, Calguneri, Meral
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Medical Association 2006
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2569755/
https://ncbi.nlm.nih.gov/pubmed/17052063
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