Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

Haematologica. 2008 Jun;93(6):943-4. doi: 10.3324/haematol.12317. Epub 2008 May 6.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Anticipation, Genetic
  • Dyskeratosis Congenita / diagnosis*
  • Dyskeratosis Congenita / genetics*
  • Family Health
  • Female
  • Humans
  • Iraq
  • Jews
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Telomerase / genetics*
  • Thrombocytopenia / diagnosis
  • Thrombocytopenia / genetics

Substances

  • Telomerase