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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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Detalhes bibliográficos
Publicado no:Eur Clin Respir J
Main Authors: Jensen, Dea Kejlberg, Villumsen, Anders, Skytte, Anne-Bine, Madsen, Mia Gebauer, Sommerlund, Mette, Bendstrup, Elisabeth
Formato: Artigo
Idioma:Inglês
Publicado em: Taylor & Francis 2017
Assuntos:
Acesso em linha: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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