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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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| Publicat a: | Oxf Med Case Reports |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2020
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| Matèries: | |
| Accés en línia: | 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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