Article
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
PloS one - 1 Jan 2012
Wieben Eric D, Aleff Ross A, Tosakulwong Nirubol, Butz Malinda L, Highsmith W Edward, Edwards Albert O, Baratz Keith H
Abstract excerpt
Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation. Variation in the transcription factor 4 (TCF4) gene has been identified as a major contributor to the disease. We tested for an association between an intronic TGC trinucleotide repeat in TCF4 and FECD by determining repeat length in 66 affected...
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