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Pulmonary manifestations of Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome (BHD) is a rare, autosomal dominant disorder characterized by the development of hair follicle tumors, renal tumors and pulmonary cysts. BHD is caused by heterozygous, predominantly truncating mutations in the folliculin (FLCN) gene located on chromosome 17, which encodes a h...

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Detalhes bibliográficos
Publicado no:Fam Cancer
Main Authors: Gupta, Nishant, Seyama, Kuniaki, McCormack, Francis X.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4409425/
https://ncbi.nlm.nih.gov/pubmed/23715758
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-013-9660-9
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