Articles with "novel tgfbi" as a keyword



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Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and Bowman Layer Opacities

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Published in 2020 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2020.1814345

Abstract: ABSTRACT Background Most transforming growth factor beta-induced (TGFBI) corneal dystrophies are associated with a characteristic phenotype, clinical course, and a conserved mutation in the TGFBI gene. However, we report a novel TGFBI missense mutation associated… read more here.

Keywords: novel tgfbi; late onset; bowman layer; tgfbi gene ... See more keywords