X-linked retinoschisis in a female with a heterozygous RS1 missense mutation

Am J Med Genet A. 2007 Mar 15;143A(6):608-9. doi: 10.1002/ajmg.a.31568.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Female
  • Heterozygote
  • Humans
  • Karyotyping
  • Mutation, Missense*
  • Retinoschisis / genetics*
  • Retinoschisis / pathology

Substances

  • Eye Proteins
  • RS1 protein, human