Article
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
Journal of medical genetics - 1 Jun 2008
Toro J R, Wei M-H, Glenn G M, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino M J, Pinto P A, Steinberg S M, Schmidt L S, Linehan W M
Abstract excerpt
BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) (MIM 135150) is an autosomal dominant predisposition to the development of follicular hamartomas (fibrofolliculomas), lung cysts, spontaneous pneumothorax, and kidney neoplasms. Germline mutations in BHD are associated with the susceptibility for BHDS. We previously described 51 BHDS families with BHD germline mutations. OBJECTIVE: To characterise the BHD mutation...
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