Article
Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene.
American journal of ophthalmology - 1 Aug 1998
Okada M, Yamamoto S, Watanabe H, Inoue Y, Tsujikawa M, Maeda N, Shimomura Y, Nishida K, Kinoshita S, Tano Y
Abstract excerpt
PURPOSE: To report a family with several members affected with granular corneal dystrophy Groenouw type 1. Three members of the family were affected with a severe placoid type of corneal dystrophy. To determine the relationship between gene mutations and phenotypic variations of the disease, we analyzed the kerato-epithelin gene. METHODS: The pedigree included a consanguineous marriage of two affected...
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