Article
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.
American journal of human genetics - 1 Feb 2001
Nishimura D Y, Searby C C, Alward W L, Walton D, Craig J E, Mackey D A, Kawase K, Kanis A B, Patil S R, Stone E M, Sheffield V C
Abstract excerpt
Mutations in the forkhead transcription-factor gene (FOXC1), have been shown to cause defects of the anterior chamber of the eye that are associated with developmental forms of glaucoma. Discovery of these mutations was greatly facilitated by the cloning and characterization of the 6p25 breakpoint in a patient with both congenital glaucoma and a balanced-translocation event involving chromosomes 6 and 13. Here we...
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