Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants
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DOI: 10.1007/s00417-018-4075-9
Abstract: PurposeSchnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. The aim of this study is to report a novel pathogenic… read more here.
Keywords: diversity patients; clinical diversity; pathogenic variant; corneal dystrophy ... See more keywords