Article
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.
The Journal of clinical endocrinology and metabolism - 1 Nov 2002
Weirich Gregor, Klein Bettina, Wöhl Thorsten, Engelhardt Dieter, Brauch Hiltrud
Abstract excerpt
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 phenotype. We report on the P81S germline mutation in a German...
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