2023
DOI: 10.1097/md.0000000000034241
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A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dubé syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report

Abstract: Rationale: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal recessive genetic disorder caused mainly by mutations in the tumor suppressor FLCN gene. Tumors caused by FLCN mutations are frequently benign and develop in skin, lungs, kidney, and other organs, leading to a variety of phenotypes that make early diagnoses of BHD challenging. Patient concerns: A 51-year-old female was admitted to Shanghai Seventh People Hospital due to chest congestion and dy… Show more

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