lunes, 25 de mayo de 2020

Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients | Orphanet Journal of Rare Diseases | Full Text

Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients | Orphanet Journal of Rare Diseases | Full Text

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...
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…
Citation:Orphanet Journal of Rare Diseases 2020 15:120
Content type:Research
Published on: 

No hay comentarios:

Publicar un comentario