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Article

Birt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.

The Annals of thoracic surgery - 1 Jul 2014

Auerbach Andrew, Roberts David H, Gangadharan Sidhu P, Kent Michael S

Abstract excerpt

Birt-Hogg-Dubé (BHD) syndrome is a recently discovered autosomal-dominant disease caused by a mutation in the folliculin gene. We report a patient with familial spontaneous pneumothorax who was found to have BHD syndrome. Patients with a personal and family history of pneumothoraces and computed tomographic (CT) findings of multiple pulmonary cysts should alert the thoracic surgeon to this syndrome; additional...

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Identifiers

PMID: 24996715
DOI: 10.1016/j.athoracsur.2013.09.022

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