Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

@article{Glousker2015UnravelingTP,
  title={Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.},
  author={Galina Glousker and Fabien Touzot and Patrick Revy and Yehuda Tzfati and Sharon A Savage},
  journal={British journal of haematology},
  year={2015},
  volume={170 4},
  pages={457-71}
}
Hoyeraal-Hreidarsson (HH) syndrome is a multisystem genetic disorder characterized by very short telomeres and considered a clinically severe variant of dyskeratosis congenita. The main cause of mortality, usually in early childhood, is bone marrow failure. Mutations in several telomere biology genes have been reported to cause HH in about 60% of the HH patients, but the genetic defects in the rest of the patients are still unknown. Understanding the aetiology of HH and its diverse… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 4 times. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 15 extracted citations

Telomere-driven diseases and telomere-targeting therapies

The Journal of cell biology • 2017
View 7 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…