Choroideremia in a Woman With Turner Syndrome

JAMA Ophthalmol. 2018 Sep 1;136(9):1076-1078. doi: 10.1001/jamaophthalmol.2018.2630.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Aged
  • Choroideremia / diagnosis*
  • Choroideremia / genetics
  • Female
  • Genetic Testing
  • Humans
  • Karyotyping
  • Pedigree
  • Point Mutation
  • Turner Syndrome / diagnosis*
  • Turner Syndrome / genetics
  • Vision Disorders / diagnosis*
  • Vision Disorders / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • CHM protein, human