Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome

Hum Mutat. 1996;8(1):85-8. doi: 10.1002/(SICI)1098-1004(1996)8:1<85::AID-HUMU15>3.0.CO;2-N.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Blindness / congenital
  • Blindness / genetics*
  • Child
  • Deafness / genetics*
  • Female
  • Genetic Linkage
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Male
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Syndrome
  • X Chromosome