Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only

OBJECTIVES— Central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB patients have VHL disease. Consequently, it is widely recommended that sporadic HAB patients are screened for clinical and radiological features...

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Detalhes bibliográficos
Main Authors: Hes, F, McKee, S, Taphoorn, M, Rehal, P, van der Luijt, R B, McMahon, R, van der Smagt, J J, Dow, D, Zewald, R, Whittaker, J, Lips, C, MacDonald, F, Pearson, P, Maher, E
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734505/
https://ncbi.nlm.nih.gov/pubmed/11106358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.12.939
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