Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

J Med Genet. 2003 Nov;40(11):e118. doi: 10.1136/jmg.40.11.e118.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Aged
  • Amino Acid Sequence
  • Child
  • Chromosomes, Human, X / genetics*
  • Eye Proteins / genetics*
  • Eye Proteins / immunology
  • Female
  • Genetic Linkage / genetics*
  • Hearing Disorders / diagnosis*
  • Hearing Disorders / genetics
  • Humans
  • Immunohistochemistry
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Recurrence
  • Respiratory Tract Infections / genetics*
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics
  • Syndrome

Substances

  • Eye Proteins
  • RPGR protein, human