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Low frequency of VHL germline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas – a population-based study
Acta Neurologica Scandinavica, 10/16/09
Rønning P et al. – von Hippel–Lindau disease anchored in germline mutations of the VHL gene is rare in the Norwegian population as opposed to clinical VHL disease, which appears to be relatively common in patients with apparently sporadic hemangioblastomas. There exists insufficient data regarding the natural history of patients with renal cysts, which makes it difficult to include or disregard these lesions as an entity of VHL disease.
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