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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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Bibliografiska uppgifter
I publikationen:Oxf Med Case Reports
Huvudupphovsmän: Vogl, Melanie, Scheed, Axel, Seebacher, Gernot, Stubenberger, Elisabeth, Ghanim, Bahil
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2020
Ämnen:
Länkar: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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