Article
Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4.
JAMA ophthalmology - 1 Dec 2015
Soliman Ahmed Z, Xing Chao, Radwan Salma H, Gong Xin, Mootha V Vinod
Abstract excerpt
IMPORTANCE: The CTG18.1 triplet repeat expansion in TCF4 has recently been found to be a common functional variant contributing significant risk to the development of Fuchs endothelial corneal dystrophy (FECD) in Eurasian populations. OBJECTIVES: To determine the effect of the expanded CTG18.1 allele of TCF4 on FECD severity and to correlate CTG triplet repeat allele length to the severity of FECD. DESIGN,...
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