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Update of penetrance estimates in Birt-Hogg-Dubé syndrome

27 Feb 2023

Abstract excerpt

Background Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by pathogenic or likely pathogenic germline variants in the FLCN gene. Patients with BHD syndrome have an increased risk of fibrofolliculomas, pulmonary cysts, pneumothorax and renal cell carcinoma. There is debate regarding whether colonic polyps should be added to the criteria. Previous risk estimates have mostly been based on small...

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PMID: 36849229
DOI: 10.1136/jmg-2022-109104

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