A case of Birt-Hogg-Dubé syndrome diagnosed by genetic testing after video-assisted thoracic surgery for pneumothorax
Author:
Affiliation:
1. Department of Surgery, Kitakyushu General Hospital
2. Department of Internal Medicine, Kirigaoka Tsuda Hospital
Publisher
Japanese Association for Chest Surgery
Subject
General Computer Science
Link
https://www.jstage.jst.go.jp/article/jacsurg/37/4/37_177/_pdf
Reference30 articles.
1. 1. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977; 113: 1674-7.
2. 2. 鈴木一廣, 瀬山邦明, 飛野和則, 桑鶴良平. 呼吸機能障害を来す病態の画像 嚢胞性肺疾患. 呼吸と循環 2014; 62: 868-72.
3. 3. Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, et al. Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 2001; 69: 876-82.
4. 4. Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell 2002; 2: 157-64.
5. 5. Daccord C, Good JM, Morren MA, Bonny O, Hohl D, Lazor R. Birt-Hogg-Dubé syndrome. Eur Respir Rev 2020; 29: 200042.
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