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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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Détails bibliographiques
Publié dans:Oxf Med Case Reports
Auteurs principaux: Vogl, Melanie, Scheed, Axel, Seebacher, Gernot, Stubenberger, Elisabeth, Ghanim, Bahil
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2020
Sujets:
Accès en ligne: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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