Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

BACKGROUND: Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focu...

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Detalles Bibliográficos
Autores principales: Houweling, A C, Gijezen, L M, Jonker, M A, van Doorn, M B A, Oldenburg, R A, van Spaendonck-Zwarts, K Y, Leter, E M, van Os, T A, van Grieken, N C T, Jaspars, E H, de Jong, M M, Bongers, E M H F, Johannesma, P C, Postmus, P E, van Moorselaar, R J A, van Waesberghe, J-Htm, Starink, T M, van Steensel, M A M, Gille, J J P, Menko, F H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2011
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251884/
https://www.ncbi.nlm.nih.gov/pubmed/22146830
http://dx.doi.org/10.1038/bjc.2011.463

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