Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin. Its clinical expression typically includes multiple pulmonary cysts, recurrent spontaneous pneumothoraces, cutaneous fibrofo...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
European Respiratory Society
2020-09-01
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| Series: | European Respiratory Review |
| Online Access: | http://err.ersjournals.com/content/29/157/200042.full |