Published in Gene Therapy Weekly, February 7th, 2008
"It predisposes affected individuals to develop a variety of neoplasms, including haemangioblastomas of the central nervous system, retinal angiomas, renal cell carcinomas (RCCs), pheochromocytomas and cysts of the kidneys and epididymis. Germ line VHL mutations have been found in all VHL disease families.(1) RCC occurs in 25% to 45% of patients with VHL disease and is one of the leading causes of death.(2) As the RCCs in VHL disease tend to be multifocal and bilateral, the...
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