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Article

A case of Birt-Hogg-Dubé syndrome.

Journal of Korean medical science - 1 Apr 2008

Kim En Hyung, Jeong Seon-Yong, Kim Hyon J, Kim You Chan

Abstract excerpt

Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis characterized by cutaneous hair follicle tumors (fibrofolliculoma or trichodiscoma), pulmonary cysts, and increased risk of renal neoplasia. The genetic alteration for BHDS has been mapped to chromosome 17p12q11, and the gene in this region has been cloned and believed to be responsible for the BHDS. Mutations in the BHD gene (also known as...

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Identifiers

PMID: 18437022
DOI: 10.3346/jkms.2008.23.2.332
PMCID: PMC2526433

Genes

FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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