From DFNB2 to Usher syndrome: variable expressivity of the same disease

Am J Med Genet. 2001 Jun 15;101(2):181-3. doi: 10.1002/ajmg.1335.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Dyneins
  • Female
  • Follow-Up Studies
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Myosin VIIa
  • Myosins / genetics
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology

Substances

  • MYO7A protein, human
  • Myosin VIIa
  • Myosins
  • Dyneins