VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.

@article{Woodward2007VHLMA,
  title={VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.},
  author={Emma R. Woodward and Kerry Wall and Joan Forsyth and Fiona Macdonald and Eamonn R Maher},
  journal={Brain : a journal of neurology},
  year={2007},
  volume={130 Pt 3},
  pages={836-42}
}
Haemangioblastomas of the CNS are a cardinal feature of von Hippel-Lindau (VHL) disease, a dominantly inherited multisystem familial cancer syndrome caused by germline mutation of the VHL tumour suppressor gene. We investigated the frequency of VHL mutations in 188 patients presenting with a single haemangioblastoma, no family history of VHL disease and no evidence of retinal or abdominal manifestations of the disease at the time of diagnosis. We found that approximately 4% of patients had a… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 23 extracted citations

Similar Papers

Loading similar papers…