Mosaicism in von Hippel–Lindau disease with severe renal manifestations
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P Wu, N Zhang, X Wang, T Li, X Ning, D Bu…
Clinical …, 2013
Wiley Online Library
von Hippel–Lindau (VHL) disease is an inheritable multisystem tumor syndrome characterized by multiple benign and malignant tumors affecting multiple organs. VHL is the result of a germline mutation in the VHL tumor suppressor gene. Molecular genomic analysis routinely confirms the clinical diagnosis. However, the use of molecular diagnostic methods can often be insufficient for the detection of mosaic germline VHL mutations, making the diagnosis of some cases of VHL difficult. Here, we report the case of a VHL …
