Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts.

Thorax · 2025 · PMC12322431 · PMID 40210444

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did not reach statistical significanceno p-value reported

12 13 However, while we found some evidence of reduced penetrance for pneumothorax in population-ascertained FLCN mutation carriers than in a clinical BHDS patient cohort, this did not reach statistical significance for lifetime risk.

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