{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:11:51Z","timestamp":1753877511594,"version":"3.41.2"},"reference-count":6,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2020,3,30]],"date-time":"2020-03-30T00:00:00Z","timestamp":1585526400000},"content-version":"vor","delay-in-days":29,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The Birt\u2013Hogg\u2013Dub\u00e9 syndrome is an orphan genetic disease characterized by the development of renal neoplasms, fibrofolliculomas, pulmonary cysts and spontaneous pneumothoraces. Here, we report on the case of a 21-year-old man presenting with a primary event of a persistent spontaneous pneumothorax. Computed tomography images and a positive family history for pneumothoraces led to the suspicion of Birt\u2013Hogg\u2013Dub\u00e9 syndrome. Genetic testing then confirmed the suspected clinical diagnosis, however with a mutation that has not yet been reported.<\/jats:p>","DOI":"10.1093\/omcr\/omaa016","type":"journal-article","created":{"date-parts":[[2020,3,30]],"date-time":"2020-03-30T09:25:07Z","timestamp":1585560307000},"source":"Crossref","is-referenced-by-count":1,"title":["A novel mutation of the folliculin gene causing Birt\u2013Hogg\u2013Dub\u00e9 syndrome as rare cause for secondary pneumothorax"],"prefix":"10.1093","volume":"2020","author":[{"given":"Melanie","family":"Vogl","sequence":"first","affiliation":[{"name":"Division of General and Thoracic Surgery, University Hospital Krems, Karl Landsteiner University of Health Sciences, Krems an der Donau, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Axel","family":"Scheed","sequence":"first","affiliation":[{"name":"Division of General and Thoracic Surgery, University Hospital Krems, Karl Landsteiner University of Health Sciences, Krems an der Donau, Austria"},{"name":"Institute of Clinical Surgery, Karl Landsteiner Society, Krems an der Donau, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gernot","family":"Seebacher","sequence":"first","affiliation":[{"name":"Division of General and Thoracic Surgery, University Hospital Krems, Karl Landsteiner University of Health Sciences, Krems an der Donau, Austria"},{"name":"Institute of Clinical Surgery, Karl Landsteiner Society, Krems an der Donau, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Stubenberger","sequence":"first","affiliation":[{"name":"Division of General and Thoracic Surgery, University Hospital Krems, Karl Landsteiner University of Health Sciences, Krems an der Donau, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bahil","family":"Ghanim","sequence":"first","affiliation":[{"name":"Division of General and Thoracic Surgery, University Hospital Krems, Karl Landsteiner University of Health Sciences, Krems an der Donau, Austria"},{"name":"Institute of Clinical Surgery, Karl Landsteiner Society, Krems an der Donau, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,3,30]]},"reference":[{"key":"2020033005250294000_ref1","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1513\/AnnalsATS.201611-886OC","article-title":"Spontaneous pneumothoraces in patients with Birt-Hogg-Dube syndrome","volume":"14","author":"Gupta","year":"2017","journal-title":"Ann Am Thorac Soc"},{"key":"2020033005250294000_ref2","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1164\/rccm.201807-1212CI","article-title":"The genetics of pneumothorax","volume":"199","author":"Boone","year":"2019","journal-title":"Am J Respir Crit Care Med"},{"key":"2020033005250294000_ref3","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/j.ccm.2016.04.010","article-title":"Birt-Hogg-Dube syndrome","volume":"37","author":"Gupta","year":"2016","journal-title":"Clin Chest Med"},{"key":"2020033005250294000_ref4","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s12931-016-0339-2","article-title":"Birt-Hogg-Dube syndrome: a large single family cohort","volume":"17","author":"Skolnik","year":"2016","journal-title":"Respir Res"},{"key":"2020033005250294000_ref5","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.2007.054304","article-title":"BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports","volume":"45","author":"Toro","year":"2008","journal-title":"J Med Genet"},{"key":"2020033005250294000_ref6","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1111\/resp.13191","article-title":"Novel clinical scoring system to identify patients with pneumothorax with suspicion for Birt-Hogg-Dube syndrome","volume":"23","author":"Ebana","year":"2018","journal-title":"Respirology"}],"container-title":["Oxford Medical Case 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