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- W2155712912 abstract "von Hippel-Lindau (VHL) disease is an autosomally dominant, pleomorphic disease of multisystem tumors. Heterogeneous germline mutations of the VHL gene (3p25-26), usually arising de novo, are found in 70% to 80% of individuals. Reviews of current genetic diagnosis, screening, and pathogenesis are available.1 Physical findings are shown in figure 1 and neuroimaging findings in figure 2.Figure 1. (A) …" @default.
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- W2155712912 date "2006-05-08" @default.
- W2155712912 modified "2023-09-27" @default.
- W2155712912 title "Clinical findings of the phakomatoses: von Hippel-Lindau disease" @default.
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- W2155712912 doi "https://doi.org/10.1212/01.wnl.0000210491.21411.25" @default.
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