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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 2000
Pynciau:
Original Articles
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg