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    Spontaneous pneumothorax can be associated with TGFBR2 mutation

    Chambers, J.E. and Dalton, L.E. and Subramanian, D.E. and Gooptu, Bibek and Balan, A. and Park, S.-M. and Holden, S. and Marciniak, S.J. (2015) Spontaneous pneumothorax can be associated with TGFBR2 mutation. European Respiratory Jurnal 46 (6), pp. 1832-1835. ISSN 0903-1936.

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    Abstract

    Primary pneumothorax affects 0.01% of the population. 10% of cases have a family history of pneumothorax but in the majority, a definitive genetic diagnosis is not made. We report a 26-year-old, white British woman who presented with left apical pneumothorax (figure 1a). Previously, she had migraines, multiple stress fractures in her right foot, myopia, easy bruising, lumbar scoliosis and spontaneous dislocation of the right patella. She had no previous history of pneumothoraces or any other respiratory problems, and had never smoked.

    Metadata

    Item Type: Article
    School: Birkbeck Faculties and Schools > Faculty of Science > School of Natural Sciences
    Research Centres and Institutes: Structural Molecular Biology, Institute of (ISMB)
    Depositing User: Administrator
    Date Deposited: 26 Oct 2015 15:36
    Last Modified: 02 Aug 2023 17:19
    URI: https://eprints.bbk.ac.uk/id/eprint/13182

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