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JYMS : Journal of Yeungnam Medical Science

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Duk Song Cho 1 Article
A Case of von Hippel-Lindau Disease with Aortic Valve Insufficiency.
Sang Hyeon Kang, In Chul Park, Duk Song Cho, Hye Jung Lee, Ho Jin Lee, Dong Hyun Lee
Yeungnam Univ J Med. 2013;30(2):101-104.   Published online December 31, 2013
DOI: https://doi.org/10.12701/yujm.2013.30.2.101
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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.

JYMS : Journal of Yeungnam Medical Science