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
Main Authors: Dea Kejlberg Jensen, Anders Villumsen, Anne-Bine Skytte, Mia Gebauer Madsen, Mette Sommerlund, Elisabeth Bendstrup
Format: Article
Language:English
Published: Taylor & Francis Group 2017-01-01
Series:European Clinical Respiratory Journal
Subjects:
Online Access:http://dx.doi.org/10.1080/20018525.2017.1292378