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Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome: A Single-Centre Retrospective Case Series of Seven Genetically Confirmed Patients and Literature Review

2026-06-09

Abstract excerpt

<h4>Background: </h4> /Objectives: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder caused by germline pathogenic variants in the FLCN gene. Although it carries a substantial lifetime risk of renal cell carcinoma, its earliest manifestations are typically pulmonary cysts and spontaneous pneumothorax, which are frequently misclassified as primary spontaneous pneumothorax, resulting in diagnostic...

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Literature Corpus work
c95c9302-7db0-5e6b-9593-1a0d72cfdc53
DOI
10.20944/preprints202606.0780.v1
Open publication

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Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome: A Single-Centre Retrospective Case Series of Seven Genetically Confirmed Patients and Literature ReviewDOI 10.20944/preprints202606.0780.v1
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