Article
Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.
Cornea - 1 Jun 2016
Micheal Shazia, Khan Muhammad Imran, Islam Farrah, Akhtar Farah, Qamar Raheel, Tassignon Marie-José, Loeys Bart, den Hollander Anneke I
Abstract excerpt
BACKGROUND: Brittle cornea syndrome (BCS) is a rare autosomal recessive connective tissue disease characterized by variable combinations of corneal thinning and fragility, corneal ruptures either spontaneously or after minor trauma, blue sclerae, keratoconus, keratoglobus, and high myopia. So far, mutations in 2 genes, PRDM5 and ZNF469, have been associated with BCS. The purpose of this study is to describe novel...
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