Patientforløbsbeskrivelse_BHD_version_2022_07.01 OMIM-kode/Orphanet-kode OMIM: 607273 (gen) 135150 (sygdom) Orpha: 122 Udvalgt litteratur Geilswijk M, Bendstrup E, Madsen MG, Sommerlund M, Skytte AB. Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature. PubMed 2018 PMID: 29439288 https://www.ncbi.nlm.nih.gov/pubmed/29439288 Forskning (Egen /samarbejdspartnere) Jensen BHD 2017.pdf Boman PS, Ousager LB , Friis-Hansen L, Van Overeem Hansen T, Broesby-Olsen S, Gerdes AM. Is Colorectal Neoplasia Part of the Birt-Hogg-Dubé Syndrome? Journal of GHR 2014 4:1039-1040. Rossing M, Albrechtsen A, Skytte AB, Jensen UB, Ousager LB , Gerdes AM, Nielsen FC, Hansen TV. Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. J HUM Genet 2017 62:151-157. Davidsen JR , Bendstrup E, Henriksen DP, Graumann O, Laursen CB. Lung ultrasound has limited diagnostic value in rare custic lung diseases: a cross-sectional study. Eur Clin Respir J. 2017;4:1330111. Artikel: Beskrivelse af eventuelt nationalt samarbejde Hansen BHD 2019.pdf 4
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