Spontaneous pneumothorax can be associated with TGFBR2 mutation

Eur Respir J. 2015 Dec;46(6):1832-5. doi: 10.1183/13993003.00952-2015. Epub 2015 Oct 22.

Authors

Joseph E Chambers¹, Lucy E Dalton¹, Deepak N Subramanian², Bibek Gooptu³, Anu Balan⁴, Soo-Mi Park⁴, Simon Holden⁴, Stefan J Marciniak⁵

Affiliations

¹ Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK These authors contributed equally.
² Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK These authors contributed equally.
³ School of Crystallography, ISMB, Birkbeck College, University of London, London, UK.
⁴ Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
⁵ Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK sjm20@cam.ac.uk.

PMID: 26493799
DOI: 10.1183/13993003.00952-2015

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Female
Genetic Predisposition to Disease
Humans
Loeys-Dietz Syndrome / complications
Loeys-Dietz Syndrome / diagnosis*
Loeys-Dietz Syndrome / genetics
Mutation
Pneumothorax / diagnostic imaging
Pneumothorax / etiology
Pneumothorax / genetics*
Protein Serine-Threonine Kinases / genetics*
Radiography
Receptor, Transforming Growth Factor-beta Type II
Receptors, Transforming Growth Factor beta / genetics*
Uvula / abnormalities

Substances

Receptors, Transforming Growth Factor beta
Protein Serine-Threonine Kinases
Receptor, Transforming Growth Factor-beta Type II

Grants and funding