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Birt-Hogg-Dubé syndrome detected incidentally by asymptomatic bilateral pneumothorax in health screening: a case of a young Japanese woman

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disease caused by mutations of germline folliculin (FCLN) mapped in the chromosome 17p11.2 region. BHD commonly accompanies renal tumors, fibrofolliculomas, multiple pulmonary cysts, and spontaneous pneumothorax. We report a case of a young Japa...

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Detalles Bibliográficos
Autores principales: Miura, Kentaro, Kondo, Ryoichi, Kurai, Makoto, Ishii, Keiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747967/
https://www.ncbi.nlm.nih.gov/pubmed/26943385
http://dx.doi.org/10.1186/s40792-015-0014-8