Article
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.
The British journal of dermatology - 1 Mar 2010
Kluger N, Giraud S, Coupier I, Avril M-F, Dereure O, Guillot B, Richard S, Bessis D
Abstract excerpt
BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis predisposing to the development of multiple fibrofolliculomas (FFs), pulmonary cysts, spontaneous pneumothorax and renal neoplasms. The association of BHDS with various nonrenal neoplasms has been reported but remains controversial. OBJECTIVES: To report the clinical features and germline mutations in 22 patients from 10 unrelated...
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