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Article

Birt-Hogg-Dubé syndrome with clear cell renal cell carcinoma in a Chinese family.

Internal medicine (Tokyo, Japan) - 1 Jan 2014

Lin Zhichun, Gong Kenan, Pang Bo, Zeng Changqing, Zhang Dake

Abstract excerpt

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis that presents as a clinical triad including follicular hamartomas, renal neoplasms and lung cysts associated with an increased risk of pneumothorax. FLCN gene defects have been identified as being responsible for BHDS. We herein report the case of a 67-year-old woman with the full-blown BHDS phenotype, characterized by skin lesions,...

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Identifiers

PMID: 25500447
DOI: 10.2169/internalmedicine.53.2814

Genes

FLCN

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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