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Two genetically confirmed Japanese cases of Birt Hogg Dube syndrome presenting with pneumothorax including early onset bilateral renal tumors in one case

2025-12-15

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Birt Hogg Dube (BHD) syndrome is an autosomal dominant disorder caused by pathogenic variants in <bold>FLCN</bold> . It characteristically features multiple pulmonary cysts and spontaneous pneumothorax, renal tumors, and cutaneous fibrofolliculomas, with renal tumors most often diagnosed in middle age <bold>[1–3]</bold> . <bold>Case presentation:</bold>...

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Literature Corpus work: d9c06b13-60a5-58d4-aa8d-fb15ff4690e5
DOI: 10.21203/rs.3.rs-7957154/v1

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