Usher syndrome: from genetics to pathogenesis.

  title={Usher syndrome: from genetics to pathogenesis.},
  author={Christine Petit},
  journal={Annual review of genomics and human genetics},
  • Christine Petit
  • Published 2001 in Annual review of genomics and human genetics
Usher syndrome (USH) is defined by the association of sensorineural deafness and visual impairment due to retinitis pigmentosa. The syndrome has three distinct clinical subtypes, referred to as USH1, USH2, and USH3. Each subtype is genetically heterogeneous, and 12 loci have been detected so far. Four genes have been identified, namely, USH1B, USH1C, USH1D… CONTINUE READING