Article

Clinical Characteristics and Genetic Analysis of a Chinese Family with Birt–Hogg–Dubé Syndrome Harboring a Novel FLCN Gene Mutation

2025-10-15

Abstract excerpt

<title>Abstract</title> <p> Background Birt–Hogg–Dubé syndrome (BHDS) is a rare hereditary disorder characterized by skin lesions, pulmonary cysts, spontaneous pneumothorax, and renal neoplasia. Mutations in the <italic>FLCN</italic> gene are known causes, yet novel variants continue to be identified, expanding genotype–phenotype correlations. Methods We investigated a Chinese family with suspected BHDS. The p...

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Literature Corpus work: 60d98c54-811c-501e-937f-67c020b92c1e
DOI: 10.21203/rs.3.rs-7841541/v1

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