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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Fam Cancer
Main Authors: Gupta, Nishant, Seyama, Kuniaki, McCormack, Francis X.
Format: Artigo
Jezik:Inglês
Izdano: 2013
Teme:
Online dostop: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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