Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement.

  title={Birt-Hogg-Dub{\'e} syndrome. State-of-the-art review with emphasis on pulmonary involvement.},
  author={Aline Amaral Dal Sasso and Luciana Camara Bel{\'e}m and Gl{\'a}ucia Zanetti and C. R. Souza and Dante Luiz Escuissato and Klaus Irion and Marcos Duarte Guimar{\~a}es and Edson Marchiori},
  journal={Respiratory medicine},
  volume={109 3},
BACKGROUND Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-dominant disorder characterized by the development of cutaneous lesions, renal tumors, pulmonary cysts, and spontaneous pneumothorax. The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) and codes for the protein folliculin, which is believed to be an oncogene suppressor protein. METHODS We reviewed currently published literature on the main characteristics of BHDS. RESULTS Pulmonary… CONTINUE READING


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