Bilateral pneumothoraces, cystic lung disease and papular skin lesions in a young man.
Haas
A R
AR
University of Pennsylvania Medical Center, Philadelphia, 19104, USA. arhaas@uphs.upenn.edu
Nathanson
K L
KL
D000328:Adult; D003560:Cysts / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008171:Lung Diseases / Q000235:genetics*; D008297:Male; D011030:Pneumothorax / Q000000981:diagnostic imaging / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011859:Radiography; D017444:Skin Diseases, Papulosquamous / Q000235:genetics*; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins