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

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. PMID: 29124032 [PubMed]
Source: Korean Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Tags: Korean J Thorac Cardiovasc Surg Source Type: research