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Article

A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.

American journal of human genetics - 1 Mar 2005

Painter Jodie N, Tapanainen Hanna, Somer Mirja, Tukiainen Pentti, Aittomäki Kristiina

Abstract excerpt

Primary spontaneous pneumothorax (PSP), a condition in which air enters the pleural space and causes secondary lung collapse, is mostly sporadic but also occurs in families. The precise etiology of PSP remains unknown, although it is associated with emphysemalike changes (bullae) in the lungs of almost all patients. We describe the results of a genetic study of a large Finnish family with a dominantly inherited...

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Identifiers

PMID: 15657874
DOI: 10.1086/428455
PMCID: PMC1196403

Genes

FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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