Spontaneous pneumothorax can be associated with TGFBR2 mutation.

Chambers, Joseph E; Dalton, Lucy E; Subramanian, Deepak N; Gooptu, Bibek; Balan, Anu; Park, Soo-Mi; Holden, Simon; Marciniak, Stefan J

Spontaneous pneumothorax can be associated with TGFBR2 mutation.

Repository URI

https://www.repository.cam.ac.uk/handle/1810/250378

Files

Chambers et al 2015 European Respiratory Journal.pdf (2.38 MB)

Type

Article

Authors

Chambers, Joseph E

Dalton, Lucy E

Subramanian, Deepak N

Gooptu, Bibek

Balan, Anu

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Abstract

TGFBR2 mutations that cause Loeys-Dietz Syndrome can present as pneumothorax. In vitro kinase assays can help confirm pathogenicity of novel variants.

Keywords

Adult, Female, Genetic Predisposition to Disease, Humans, Loeys-Dietz Syndrome, Mutation, Pneumothorax, Protein Serine-Threonine Kinases, Radiography, Receptor, Transforming Growth Factor-beta Type II, Receptors, Transforming Growth Factor beta, Uvula

Journal Title

Eur Respir J

Journal ISSN

0903-1936
1399-3003

Volume Title

46

Publisher

European Respiratory Society (ERS)

Publisher DOI

https://doi.org/10.1183/13993003.00952-2015

Rights

http://www.rioxx.net/licenses/all-rights-reserved

Sponsorship

Medical Research Council (G1002610)
Medical Research Council (G0601840)
Wellcome Trust (100140/Z/12/Z)

SJM is an MRC Senior Clinical Fellow

Collections

Scholarly Works - Medicine
Scholarly Works - Cambridge Institute for Medical Research
Scholarly Works - Clinical Medicine
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