Paris-Trousseau: evidence keeps pointing to FLI1

Blood. 2015 Oct 22;126(17):1973-4. doi: 10.1182/blood-2015-09-667634.

Abstract

In this issue of Blood, Stevenson et al describe a family with a homozygous missense mutation in FLI1 that is associated with a platelet phenotype identical to the one observed in Paris-Trousseau syndrome, supporting existing evidence that FLI1 is directly involved in the mechanism of thrombocytopenia observed in this disease.

Publication types

  • Comment

MeSH terms

  • Chromosomes, Human, Pair 11 / genetics*
  • DNA / metabolism*
  • Female
  • Humans
  • Jacobsen Distal 11q Deletion Syndrome / genetics*
  • Male
  • Mutation / genetics*
  • Proto-Oncogene Protein c-fli-1 / genetics*

Substances

  • Proto-Oncogene Protein c-fli-1
  • DNA