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Birt‐Hogg‐Dubé syndrome: an underdiagnosed genetic tumor syndrome

1 Mar 2018

Abstract excerpt

Birt-Hogg-Dubé syndrome (BHD, also referred to as Hornstein-Knickenberg syndrome) is an autosomal dominant tumor syndrome caused by mutations in the FLCN gene located on chromosome 17. Depending on their age, patients with BHD may exhibit various clinical signs and symptoms. Disease severity can vary greatly among members of the same family. Early symptoms include basal lung cysts, which can lead to recurrent...

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PMID: 29537177
DOI: 10.1111/ddg.13457

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