Clinical heterogeneity in a family with mutations in USH2A

JAMA Ophthalmol. 2015 Mar;133(3):352-5. doi: 10.1001/jamaophthalmol.2014.5163.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Deafness / genetics*
  • Electroretinography
  • Exons / genetics
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Genetic Heterogeneity*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Retinitis Pigmentosa / genetics*
  • Siblings
  • Usher Syndromes / genetics*

Substances

  • Extracellular Matrix Proteins
  • USH2A protein, human

Supplementary concepts

  • Usher syndrome, type 2A