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    • A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma 

      Souzeau, Emmanuelle; Burdon, Kathryn Penelope; Ridge, Bronwyn; Dubowsky, Andrew; Ruddle, Jonathan B; Craig, Jamie E (BioMed Central, 2016)
      BACKGROUND: Glaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8-36% of cases, and display an autosomal dominant inheritance ...