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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma

Fig. 3

Phenotypic traits of Korean VHL patients. a Number of VHL-related tumors in 2 groups of VHL patients (de novo mutation vs. familial mutation). The patients are represented on the x-axis. bd Age-related penetrance of CHB in VHL mutations. b HIF-α binding site vs. elongin C binding site. c Missense mutations vs. other mutations. d Missense mutations within the HIF-α binding site vs. other mutations

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