Winek J

No ORCID on file · 1 paper in corpus
2021
Orphanet journal of rare diseases ·doi:10.1186/s13023-021-01931-0

BackgroundBirt-Hogg-Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), pul…