Article
Novel mutations in the folliculin gene associated with spontaneous pneumothorax.
The European respiratory journal - 1 Nov 2008
Fröhlich B A, Zeitz C, Mátyás G, Alkadhi H, Tuor C, Berger W, Russi E W
Abstract excerpt
Spontaneous pneumothorax is mostly sporadic but may also occur in families with genetic disorders, such as Birt-Hogg-Dubé syndrome, which is caused by mutations in the folliculin (FLCN) gene. The aim of the present study was to investigate the presence and type of mutation in a Swiss pedigree and in a sporadic case. Clinical examination, lung function tests and high-resolution computed tomography were performed....
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