VHL gene

A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma

X. M. Fu, Zhao, S. L., Gui, J. C., Jiang, Y. Q., Shen, M. N., Su, D. L., Gu, B. J., Wang, X. Q., Ren, Q. J., Yin, X. D., Huang, W. B., and Chen, X. G., A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma, vol. 14, pp. 4513-4520, 2015.

Hemangioblastoma of the central nervous system occurs as sporadic tumors or as a part of von Hippel-Lindau (VHL) disease, an autosomal dominant hereditary tumor syndrome caused by a germline mutation in the VHL tumor suppressor gene. We screened a Chinese family with VHL for mutations in the VHL gene and evaluated a genetic test for diagnosing VHL disease and clinical screening of family members.

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