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Article

Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.

Orphanet journal of rare diseases - 6 Jul 2021

Radzikowska Elżbieta, Lechowicz Urszula, Winek Jolanta, Opoka Lucyna

Abstract excerpt

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), pulmonary cysts with pneumothoraces and renal tumours. We present the features of Polish patients with BHDS. MATERIALS AND METHODS: The first case of BHDS in Poland was...

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Identifiers

PMID: 34229741
DOI: 10.1186/s13023-021-01931-0
PMCID: PMC8258955

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