Early onset of renal cancer in a family with Birt-Hogg-DubE syndrome

I Kluijt, D. Jong, H.J. Teertstra, P.H. Axwijk, J.J.P. Gille, K. Bell, A. van Rens, A.W.G. van der Velden, L. Middelton, S. Horenblas

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Kluijt I, de Jong D, Teertstra HJ, Axwijk PH, Gille JJP, Bell K, van Rens A, van der Velden AWG, Middelton L, Horenblas S. Early onset of renal cancer in a family with Birt-Hogg-DubE syndrome.Clin Genet 2009: 75: 537-543. (C) John Wiley & 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 mutation
Original languageUndefined/Unknown
Pages (from-to)537-543
JournalClinical genetics
Issue number6
Publication statusPublished - 2009

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