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Birt–Hogg–Dubé syndrome: a case report and a review of the literature

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN). The clinical manifestations of the syndrome involve the skin, lungs, and kidneys. Because of the rarity of the syndrome, guidelines for diagnosis and m...

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Bibliographic Details
Published in:Eur Clin Respir J
Main Authors: Jensen, Dea Kejlberg, Villumsen, Anders, Skytte, Anne-Bine, Madsen, Mia Gebauer, Sommerlund, Mette, Bendstrup, Elisabeth
Format: Artigo
Language:Inglês
Published: Taylor & Francis 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5345590/
https://ncbi.nlm.nih.gov/pubmed/28326182
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/20018525.2017.1292378
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