BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports

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 p...

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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2008
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564862/
https://www.ncbi.nlm.nih.gov/pubmed/18234728
http://dx.doi.org/10.1136/jmg.2007.054304

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