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Article

Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

Journal of medical genetics - 1 Dec 2002

Khoo S K, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, Binet O, Lambert D, Friedel J, Lévy R, Ferlicot S, Wolkenstein P, Hammel P, Bergerheim U, Hedblad M-A, Bradley M, Teh B T, Nordenskjöld M, Richard S

Abstract excerpt

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant cancer syndrome characterised by benign skin tumours, renal tumours, and spontaneous pneumothorax. The gene has been mapped to chromosome 17p11.2 and recently identified, expressing a novel protein called folliculin. We report the clinical and genetic studies of four sporadic BHD cases and four families with a total of 23 affected subjects. Haplotype analysis...

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Identifiers

PMID: 12471204
DOI: 10.1136/jmg.39.12.906
PMCID: PMC1757219

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

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