Article
Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
Molecular vision - 1 Jan 2011
Orr Andrew, Dubé Marie-Pierre, Zenteno Juan C, Jiang Haiyan, Asselin Geraldine, Evans Susan C, Caqueret Aurore, Lakosha Hesham, Letourneau Louis, Marcadier Julien, Matsuoka Makoto, Macgillivray Christine, Nightingale Mathew, Papillon-Cavanagh Simon, Perry Scott, Provost Sylvie, Ludman Mark, Guernsey Duane L, Samuels Mark E
Abstract excerpt
PURPOSE: Nanophthalmos is a rare genetic ocular disorder in which the eyes of affected individuals are abnormally small. Patients suffer from severe hyperopia as a result of their markedly reduced axial lengths, but otherwise are capable of seeing well unlike other more general forms of microphthalmia. To date one gene for nanophthalmos has been identified, encoding the membrane-type frizzled related protein...
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