Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene
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DOI: 10.1186/s12886-018-0918-8
Abstract: BackgroundThe purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands.MethodsWe identified two white Czech, two white British and two South… read more here.
Keywords: corneal; microscopy; schnyder corneal; corneal dystrophy ... See more keywords