De novo splice mutation in the versican gene in a family with Wagner syndrome

JAMA Ophthalmol. 2013 Jun;131(6):805-7. doi: 10.1001/jamaophthalmol.2013.681.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Child, Preschool
  • DNA Mutational Analysis
  • Diagnostic Techniques, Ophthalmological
  • Female
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / surgery
  • Versicans / genetics*

Substances

  • VCAN protein, human
  • Versicans

Supplementary concepts

  • Hyaloideoretinal degeneration of Wagner