Article
Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement.
Respiratory medicine - 1 Mar 2015
Dal Sasso Aline Amaral, Belém Luciana Camara, Zanetti Gláucia, Souza Carolina Althoff, Escuissato Dante Luiz, Irion Klaus Loureiro, Guimarães Marcos Duarte, Marchiori Edson
Abstract excerpt
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...
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