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Article

Birt-Hogg-Dubé syndrome: a large single family cohort.

Respiratory research - 29 Feb 2016

Skolnik Kate, Tsai Willis H, Dornan Kimberly, Perrier Renée, Burrowes Paul W, Davidson Warren J

Abstract excerpt

BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition characterized by dermatologic lesions, pulmonary manifestations, and renal tumors. The syndrome arises from germline mutations in the folliculin (FLCN) gene. We present findings from the single largest family BHD cohort described to date. Primary objectives were to characterize cystic lung changes on computed tomography (CT) chest...

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Identifiers

PMID: 26928018
DOI: 10.1186/s12931-016-0339-2
PMCID: PMC4770529

Genes

FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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