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Article

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.

Journal of human genetics - 1 Feb 2017

Rossing Maria, Albrechtsen Anders, Skytte Anne-Bine, Jensen Uffe B, Ousager Lilian B, Gerdes Anne-Marie, Nielsen Finn C, Hansen Thomas vO

Abstract excerpt

Pathogenic germline mutations in the folliculin (FLCN) tumor suppressor gene predispose to Birt-Hogg-Dubé (BHD) syndrome, a rare disease characterized by the development of cutaneous hamartomas (fibrofolliculomas), multiple lung cysts, spontaneous pneumothoraces and renal cell cancer. In this study, we report the identification of 13 variants and three polymorphisms in the FLCN gene in 143 Danish patients or...

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Identifiers

PMID: 27734835
DOI: 10.1038/jhg.2016.118

Genes

FLCN

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

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Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.PMID 27734835Read ↗

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