Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients

Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients

Abstract Background Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple pulmonary cysts, and recurrent spontaneous pneumothoraces. Data on...

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Main Authors: C. Daccord, V. Cottin, G. Prévot, Y. Uzunhan, J. F. Mornex, P. Bonniaud, R. Borie, A. Briault, M. A. Collonge-Rame, B. Crestani, G. Devouassoux, O. Freynet, A. Gondouin, P. A. Hauss, C. Khouatra, S. Leroy, S. Marchand-Adam, C. Marquette, D. Montani, J. M. Naccache, G. Nadeau, N. Poulalhon, M. Reynaud-Gaubert, M. Salaun, B. Wallaert, J. F. Cordier, M. Faouzi, R. Lazor, the OrphaLung network
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Birt-Hogg-Dube syndrome
FLCN protein, human
Respiratory function tests
Pleurodesis
Online Access:http://link.springer.com/article/10.1186/s13023-020-01402-y

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http://link.springer.com/article/10.1186/s13023-020-01402-y

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