Article
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
American journal of human genetics - 1 Nov 2005
Krafchak Charles M, Pawar Hemant, Moroi Sayoko E, Sugar Alan, Lichter Paul R, Mackey David A, Mian Shahzad, Nairus Theresa, Elner Victor, Schteingart Miriam T, Downs Catherine A, Kijek Theresa Guckian, Johnson Jenae M, Trager Edward H, Rozsa Frank W, Mandal Md Nawajes Ali, Epstein Michael P, Vollrath Douglas, Ayyagari Radha, Boehnke Michael, Richards Julia E
Abstract excerpt
Posterior polymorphous corneal dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of corneal endothelial cells. In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. We previously...
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