Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA

@article{Fogarty2003LatePO,
  title={Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA},
  author={Patrick F. Fogarty and Hiroki Yamaguchi and Adrian Wiestner and Gabriela M. Baerlocher and Neal S. Young},
  journal={The Lancet},
  year={2003},
  volume={362},
  pages={1628-1630}
}
Aplastic anaemia in adults is usually acquired, but rarely constitutional types of bone marrow failure can occur late in life. We assessed two families with onset of pancytopenia in adults and detected two novel point mutations in the telomerase RNA gene (TERC) in each family. This gene is abnormal in some kindreds with dyskeratosis congenita. Individuals in our families with mutated TERC did not have physical signs of dyskeratosis congenita, and their blood counts were nearly normal, but all… CONTINUE READING

Topics from this paper.

Citations

Publications citing this paper.
SHOWING 1-10 OF 122 CITATIONS, ESTIMATED 35% COVERAGE

Current concepts in the pathophysiology and treatment of aplastic anemia.

  • Hematology. American Society of Hematology. Education Program
  • 2013
VIEW 7 EXCERPTS

Dyskeratosis congenita.

  • Hematology/oncology clinics of North America
  • 2009
VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Aplastic Anemia.

  • The New England journal of medicine
  • 2018

FILTER CITATIONS BY YEAR

2004
2019

CITATION STATISTICS

  • 2 Highly Influenced Citations