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A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax
The Birt–Hogg–Dubé syndrome is an orphan genetic disease characterized by the development of renal neoplasms, fibrofolliculomas, pulmonary cysts and spontaneous pneumothoraces. Here, we report on the case of a 21-year-old man presenting with a primary event of a persistent spontaneous pneumothorax....
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| Publicado no: | Oxf Med Case Reports |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7104189/ https://ncbi.nlm.nih.gov/pubmed/32257251 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/omcr/omaa016 |
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