Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.


Wagner disease is a rare nonsyndromic autosomal-dominant vitreoretinopathy, associated with splice mutations specifically targeting VCAN exon 8. We report the extensive genetic analysis of two Wagner probands, previously found negative for disease-associated splice mutations. Next-generation sequencing (NGS), quantitative real-time PCR, and long-range PCR… (More)
DOI: 10.1002/humu.23124


  • Presentations referencing similar topics