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Article

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.

American journal of respiratory and critical care medicine - 15 May 2007

Toro Jorge R, Pautler Stephen E, Stewart Laveta, Glenn Gladys M, Weinreich Michael, Toure Ousmane, Wei Ming-Hui, Schmidt Laura S, Davis Lewis, Zbar Berton, Choyke Peter, Steinberg Seth M, Nguyen Dao M, Linehan W Marston

Abstract excerpt

RATIONALE: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to fibrofolliculomas, kidney neoplasms, lung cysts, and spontaneous pneumothorax. OBJECTIVES: We evaluated 198 patients from 89 families with BHDS to characterize the risk factors for pneumothorax and genotype-pulmonary associations. METHODS: Helical computed tomography scans of the chest were used to...

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Identifiers

PMID: 17322109
DOI: 10.1164/rccm.200610-1483OC
PMCID: PMC1899269

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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