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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
Autors principals: Vogl, Melanie, Scheed, Axel, Seebacher, Gernot, Stubenberger, Elisabeth, Ghanim, Bahil
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
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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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