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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Detalles Bibliográficos
Autores principales: Vogl, Melanie, Scheed, Axel, Seebacher, Gernot, Stubenberger, Elisabeth, Ghanim, Bahil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7104189/
https://www.ncbi.nlm.nih.gov/pubmed/32257251
http://dx.doi.org/10.1093/omcr/omaa016

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