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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Hlavní autoři: Kalyoncu, Umut, Tufan, Abdurrahman, Karadag, Omer, Kisacik, Bunyamin, Akdogan, Ali, Calguneri, Meral
Médium: Artigo
Jazyk:Inglês
Vydáno: National Medical Association 2006
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2569755/
https://ncbi.nlm.nih.gov/pubmed/17052063
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