RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

J Med Genet. 2003 Aug;40(8):609-15. doi: 10.1136/jmg.40.8.609.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Carrier Proteins / genetics*
  • Ciliary Motility Disorders / genetics
  • Deafness / genetics*
  • Eye Proteins*
  • Female
  • Genetic Carrier Screening
  • Genetic Diseases, X-Linked / genetics
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Respiratory Tract Infections / genetics*
  • Retinitis Pigmentosa / genetics*
  • Sinusitis / genetics*
  • Sinusitis / microbiology
  • Syndrome
  • Thoracic Diseases / genetics
  • Thoracic Diseases / microbiology

Substances

  • Carrier Proteins
  • Eye Proteins
  • RPGR protein, human