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KMID : 0364020170500050386
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Korean Journal of Thoracic and Cardiovascular Surgery
2017 Volume.50 No. 5 p.386 ~ p.390
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Birt-Hogg-Dube Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
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Kim Kyung-Soo
Choi Hang-Jun
Jang Woo-Ri
Chae Hyo-Jin
Kim Myung-Shin
Moon Seok-Whan
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Abstract
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Birt-Hogg-Dube syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.
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KEYWORD
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Birt-Hogg-Dube syndrome, Pneumothorax, FLCN, Thoracoscopy, Video-assisted thoracic surgery
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