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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 m...

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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 4 Sept 2026. Prepared record publication-17124507-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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