Spontaneous pneumothorax can be associated with TGFBR2 mutation.
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK These authors contributed equally.
Joseph E
JE
Chambers
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK These authors contributed equally.
Lucy E
LE
Dalton
Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK These authors contributed equally.
Deepak N
DN
Subramanian
School of Crystallography, ISMB, Birkbeck College, University of London, London, UK.
Bibek
B
Gooptu
Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Anu
A
Balan
Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Soo-Mi
SM
Park
Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Simon
S
Holden
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK sjm20@cam.ac.uk.
Stefan J
SJ
Marciniak
D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D011030:Pneumothorax / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D011859:Radiography; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D014609:Uvula / Q000002:abnormalities
D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II