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Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients

✍ Scribed by 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


Book ID
110049666
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
212 KB
Volume
127
Category
Article
ISSN
0022-202X

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## Abstract Birt‐Hogg‐Dubé syndrome (BHDS), caused by germline mutations in the folliculin (__FLCN__) gene, predisposes individuals to develop fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and kidney cancer. The __FLCN__ mutation detection rate by bidirectional DNA sequencing in t