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Article

[Birt-Hogg-Dubé syndrome].

Ugeskrift for laeger - 19 Jul 2010

Rehfeld Anders, van Steensel Maurice A M, Friis-Hansen Lennart

Abstract excerpt

Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20633341

Genes

FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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