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

@article{Sasso2015BirtHoggDubSS,
  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},
  year={2015},
  volume={109 3},
  pages={289-96}
}
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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References

Publications referenced by this paper.
Showing 1-10 of 44 references

[Birt-Hogg-Dubé syndrome: an update].

View 11 Excerpts
Highly Influenced

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.

American journal of respiratory and critical care medicine • 2007
View 10 Excerpts
Highly Influenced

Birt–Hogg–Dubé syndrome: clinicopathological features of the lung

Journal of clinical pathology • 2013
View 7 Excerpts
Highly Influenced

Cancer-associated genodermatoses: skin neoplasms as clues to hereditary tumor syndromes.

Critical reviews in oncology/hematology • 2013
View 7 Excerpts
Highly Influenced

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