VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.

@article{Weirich2002VHL2CPI,
  title={VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.},
  author={Gregor Weirich and Bettina Klein and Thorsten W{\"o}hl and D. Engelhardt and Hiltrud Brauch},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2002},
  volume={87 11},
  pages={5241-6}
}
Von Hippel-Lindau disease (VHL) is a multitumor syndrome that develops on the basis of germline mutations in the VHL tumor suppressor gene. Genotype-phenotype correlations have helped to stratify the disease into VHL type 1 (without pheochromocytoma) and VHL type 2A, 2B, and 2C (with pheochromocytoma). VHL2C is characterized by a pheochromocytoma-only… CONTINUE READING