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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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| Veröffentlicht in: | Fam Cancer |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2013
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| Schlagworte: | |
| Online Zugang: | 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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