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- Title
Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome.
- Authors
Kluijt, I; de Jong, D; Teertstra, H J; Axwijk, P H; Gille, J J P; Bell, K; van Rens, A; van der Velden, A W G; Middelton, L; Horenblas, S
- Abstract
Birt-Hogg-Dubé syndrome is a hereditary syndrome characterized by benign disease of skin and lungs and a risk of malignant renal tumors. We describe a clinical and genetic study of a large Dutch family with a novel mutation in the FLCN gene. Renal cancer at very young age occurred in one branch of this family, while in other branches, cutaneous and pulmonary symptoms predominated. A variety of congenital anomalies and connective tissue abnormalities were observed, possibly associated with the gene mutation.
- Publication
Clinical genetics, 2009, Vol 75, Issue 6, p537
- ISSN
1399-0004
- Publication type
Journal Article
- DOI
10.1111/j.1399-0004.2009.01159.x