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

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 lung fun...

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Detalles Bibliográficos
Autores principales: Daccord, C., Cottin, V., Prévot, G., Uzunhan, Y., Mornex, J. F., Bonniaud, P., Borie, R., Briault, A., Collonge-Rame, M. A., Crestani, B., Devouassoux, G., Freynet, O., Gondouin, A., Hauss, P. A., Khouatra, C., Leroy, S., Marchand-Adam, S., Marquette, C., Montani, D., Naccache, J. M., Nadeau, G., Poulalhon, N., Reynaud-Gaubert, M., Salaun, M., Wallaert, B., Cordier, J. F., Faouzi, M., Lazor, R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245949/
https://www.ncbi.nlm.nih.gov/pubmed/32448321
http://dx.doi.org/10.1186/s13023-020-01402-y