Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions

Conclusion
The number of generations and the status of exon 2 could affect age of onset of VHL-related manifestations. Onset age was an independent risk factor for overall survival. TKI therapy was effective in VHL patients with LDs. Our findings would further support clinical surveillance and decision-making processes.

Source: Journal of Medical Genetics - April 20, 2023 Category: Genetics & Stem Cells Authors: Zhang, K., Yang, W., Ma, K., Qiu, J., Li, L., Xu, Y., Zhang, Z., Yu, C., Zhou, J., Gong, Y., Cai, L., Gong, K. Tags: Genotype-phenotype correlations Source Type: research