Article
Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4.
PloS one - 1 Jan 2018
Wieben Eric D, Aleff Ross A, Tang Xiaojia, Kalari Krishna R, Maguire Leo J, Patel Sanjay V, Baratz Keith H, Fautsch Michael P
Abstract excerpt
Fuchs Endothelial Corneal Dystrophy (FECD) is a late onset, autosomal dominant eye disease that can lead to loss of vision. Expansion of a CTG trinucleotide repeat in the third intron of the transcription factor 4 (TCF4) gene is highly associated with FECD. However, only about 75% of FECD patients in the northern European population possess an expansion of this repeat. The remaining FECD cases appear to be...
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