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KMID : 0370920130300020101
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Yeungnam Univercity Journal of Medicine
2013 Volume.30 No. 2 p.101 ~ p.104
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A Case of von Hippel-Lindau Disease with Aortic Valve Insufficiency
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Kang Sang-Hyeon
Park In-Chul
Cho Duk-Song
Lee Hye-Jung
Lee Ho-Jin
Lee Dong-Hyun
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Abstract
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Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary disorder caused by a germline mutation of the VHL gene. It is a multi-systemic disorder that is predisposed to benign or malignant tumors of visceral organs such as hemangioblastoma of the central nervous system, renal cell carcinoma, retinal angioma and pheochromocytoma. We report herein a case of VHL disease that initially manifested with aortic valve insufficiency.
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KEYWORD
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von Hippel-Lindau disease, Aortic valve insufficiency
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