Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation

Br J Haematol. 2012 Dec;159(5):498. doi: 10.1111/bjh.12088. Epub 2012 Oct 24.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Dyskeratosis Congenita / genetics*
  • Dyskeratosis Congenita / pathology*
  • Humans
  • Male
  • Mutation*
  • Retinal Hemorrhage / pathology*
  • Retinal Vessels / pathology*
  • Telomere-Binding Proteins / genetics*

Substances

  • TINF2 protein, human
  • Telomere-Binding Proteins