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Introduction Von Hippel–Lindau (VHL) disease is a rare autosomal dominant disease that manifests as a variety of benign and malignant neoplasms, including retinal hemangioma (HB), HB of the central nervous system (CNS), pancreatic
Department of Medicine IV, Medical Center – University of Freiburg
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Introduction Von Hippel-Lindau (VHL) disease is an inherited autosomal-dominant tumour predisposition syndrome caused by inactivating mutations of the VHL tumour suppressor gene. The disorder is characterised by the frequent development of
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CINTESIS, Center for Health Technology and Services Research, University of Porto, Porto, Portugal
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Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal
Department of Clinical Pathology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal
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Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Department of Endocrinology, Centro Hospitalar Universitário de São João (CHUSJ), Porto, Portugal
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with positive family history of vHL disease, and number of patients with PPGL (including the number of patients with bilateral adrenal presentation). Our outcome variable consisted of the number of patients with PPGL (instead of the number of patients
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future radiological surveillance protocols developed for inherited tumour syndromes including those related to multiple endocrine neoplasia, succinate dehydrogenase gene mutations ( SDH ) and Von Hipple–Lindau ( VHL ) disease. Although there are limited