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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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Dettagli Bibliografici
Pubblicato in:Fam Cancer
Autori principali: Gupta, Nishant, Seyama, Kuniaki, McCormack, Francis X.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2013
Soggetti:
Accesso online: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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