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