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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Eur Clin Respir J
Päätekijät: Jensen, Dea Kejlberg, Villumsen, Anders, Skytte, Anne-Bine, Madsen, Mia Gebauer, Sommerlund, Mette, Bendstrup, Elisabeth
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Taylor & Francis 2017
Aiheet:
Linkit: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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