Early onset of renal cancer in a family with Birt-Hogg-DubE syndrome
- Kluijt, I
- Jong, D.
- Teertstra, H.J.
- Axwijk, P.H.
- Gille, J.J.P.
- Bell, K.
- Rens, A. van
- Velden, A.W.G. van der
- Middelton, L.
- Horenblas, S.
DOIAbstract
Sons A/S, 2009 Birt-Hogg-DubE 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 mutatio
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