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A subset of patients with epithelial basement membrane corneal dystrophy have mutations inTGFBI/BIGH3

1 Jan 2006

Abstract excerpt

Epithelial basement membrane corneal dystrophy (EBMD), also known as Cogan microcystic epithelial dystrophy or map-dot-fingerprint dystrophy, is a common bilateral epithelial dystrophy. Usually, this disease is not considered to be inherited although several families with autosomal dominant inheritance have been described. We report the analysis of two families with an autosomal dominant pattern of inheritance as...

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PMID: 16652336
DOI: 10.1002/humu.20331

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