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• W2092303971 abstract "von Hippel–Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumours, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, and pancreatic tumours. The current study investigated the occurrence of VHL mutations in Italian patients with classic VHL disease or with atypical VHL-like clinical features referred to the Service of Medical Genetics for VHL molecular diagnosis. In addition, an RQ-PCR protocol was validated in order to introduce it in the routine VHL laboratory diagnosis." @default.
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• W2092303971 date "2009-09-01" @default.
• W2092303971 modified "2023-09-27" @default.
• W2092303971 title "Germline mutations in the von Hippel–Lindau gene in Italian patients" @default.
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• W2092303971 doi "https://doi.org/10.1016/j.ejmg.2009.05.007" @default.
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