Birt-Hogg-Dubé Syndrome in a Patient With Cutaneous Symptoms and a c.1429 C>T; p.R477X Mutation in Exon 12 of the Folliculin Gene
Abstract
Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and retroauricular area. Histology was compatible with...
Paper Details
Title
Birt-Hogg-Dubé Syndrome in a Patient With Cutaneous Symptoms and a c.1429 C>T; p.R477X Mutation in Exon 12 of the Folliculin Gene
Published Date
Jan 1, 2009
Journal
Volume
100
Issue
3
Pages
227 - 230
Citation AnalysisPro
You’ll need to upgrade your plan to Pro
Looking to understand the true influence of a researcher’s work across journals & affiliations?
- Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
- Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.
Notes
History