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Article

Birt-Hogg-Dube syndrome: clinicopathological features of the lung.

Journal of clinical pathology - 1 Mar 2013

Furuya Mitsuko, Nakatani Yukio

Abstract excerpt

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant inherited disorder characterised by fibrofolliculomas, renal tumours, pulmonary cysts and pneumothorax. The pulmonary cysts and repeated episodes of pneumothorax are the clinical hallmarks for discovering families affected by the syndrome. This disorder is caused by mutations in the gene coding for folliculin (FLCN). FLCN forms a complex with FLCN-interacting...

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Source

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Identifiers

PMID: 23223565
DOI: 10.1136/jclinpath-2012-201200
PMCID: PMC3595143

Genes

FLCN
FNIP1
FNIP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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