Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene

Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene

Birt-Hogg-Dubé 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 devel...

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Bibliographic Details
Main Authors: Kyung Soo Kim, Hang Jun Choi, Woori Jang, Hyojin Chae, Myungshin Kim, Seok Whan Moon
Format: Article
Language:English
Published: Korean Society for Thoracic and Cardiovascular Surgery 2017-10-01
Series:Korean Journal of Thoracic and Cardiovascular Surgery
Subjects:
Birt-Hogg-Dubé syndrome
Pneumothorax
FLCN
Thoracoscopy
Video-assisted thoracic surgery
Online Access:http://www.kjtcvs.org/journal/download_pdf.php?doi=10.5090/kjtcs.2017.50.5.386

Internet

http://www.kjtcvs.org/journal/download_pdf.php?doi=10.5090/kjtcs.2017.50.5.386

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