Associated Papers
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 2020
33137092 (PubMed )
Supplement: pgen.1009187.s014.xlsx › Fig2F_S10AB
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
Liu K et al.
Orphanet Journal of Rare Diseases, 2019
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.
Kumasaka T et al.
Histopathology, 2014
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.
Kunogi M et al.
Journal of Medical Genetics, 2010
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