Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients

Conclusion
This study indicated that affected offspring of VHL patients with CNS as the first presenting symptom was an independent risk factor for overall survival and CHB-specific survival. Generation and mutation region only had an effect on the onset age, which is helpful to clinical decision-making and generate a more precise surveillance protocol.

Source: Journal of Medical Genetics - September 26, 2022 Category: Genetics & Stem Cells Authors: Zhang, K., Qiu, J., Yang, W., Ma, K., Li, L., Xie, H., Xu, Y., Gong, Y., Zhou, J., Cai, L., Gong, K. Tags: Open access Genotype-phenotype correlations Source Type: research