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Article

Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.

The Journal of investigative dermatology - 1 Mar 2007

van Steensel Maurice A M, Verstraeten Valerie L R M, Frank Jorge, Kelleners-Smeets Nicole W J, Poblete-Gutiérrez Pamela, Marcus-Soekarman Dominique, Bladergroen Reno S, Steijlen Peter M, van Geel Michel

Abstract excerpt

Birt-Hogg-Dubé (BHD) syndrome is an autosomal-dominantly inherited cancer syndrome characterized by fibrofolliculomas, lung cysts leading to pneumothorax, and chromophobic/oncocytic renal cell carcinoma. The disease is caused by heterozygous mutations in the BHD gene encoding folliculin and all mutations reported putatively lead to protein truncation. Although the function of folliculin is unknown, it is thought...

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PMID: 17124507
DOI: 10.1038/sj.jid.5700592

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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