Nijmegen breakage syndrome diagnosed as Fanconi anaemia.

@article{New2005NijmegenBS,
  title={Nijmegen breakage syndrome diagnosed as Fanconi anaemia.},
  author={Helen V. New and Catherine M. Cale and Marc Tischkowitz and Anne Jones and Paul T. Telfer and Paul A. Veys and Alan D'Andrea and Christopher G Mathew and Ian Hann},
  journal={Pediatric blood & cancer},
  year={2005},
  volume={44 5},
  pages={
          494-9
        }
}
BACKGROUND Fanconi anaemia (FA) and Nijmegen breakage syndrome (NBS) are rare chromosomal instability disorders with overlapping clinical features. It has recently been shown that, like FA, NBS is also associated with increased chromosomal sensitivity to DNA cross-linking agents. PROCEDURE We report a family that was initially diagnosed with FA on the basis of increased sensitivity to DNA cross-linking agents. They were atypical in that there were associated severe infection problems. In view… CONTINUE READING
Highly Cited
This paper has 21 citations. REVIEW CITATIONS

Citations

Publications citing this paper.
Showing 1-10 of 14 extracted citations