Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

J Med Genet. 2003 Oct;40(10):767-72. doi: 10.1136/jmg.40.10.767.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Europe, Eastern / ethnology
  • Female
  • Genotype
  • Hearing Loss, Sensorineural* / diagnosis
  • Hearing Loss, Sensorineural* / ethnology
  • Hearing Loss, Sensorineural* / genetics
  • Homozygote
  • Humans
  • Jews / genetics*
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Mutation
  • Pedigree
  • Phenotype
  • Retinitis Pigmentosa* / diagnosis
  • Retinitis Pigmentosa* / ethnology
  • Retinitis Pigmentosa* / genetics
  • Syndrome
  • Vestibular Diseases* / diagnosis
  • Vestibular Diseases* / ethnology
  • Vestibular Diseases* / genetics

Substances

  • CLRN1 protein, human
  • Membrane Proteins

Associated data

  • OMIM/276900
  • OMIM/276901
  • OMIM/276902
  • OMIM/276903
  • OMIM/276904
  • OMIM/276905
  • OMIM/601067
  • OMIM/602083
  • OMIM/602097
  • OMIM/605472
  • OMIM/606943