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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Abstract

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
Volume75
Issue number6
DOIs
Publication statusPublished - 2009

Cite this

Kluijt, I., Jong, D., Teertstra, H. J., Axwijk, P. H., Gille, J. J. P., Bell, K., ... Horenblas, S. (2009). Early onset of renal cancer in a family with Birt-Hogg-DubE syndrome. Clinical Genetics, 75(6), 537-543. https://doi.org/10.1111/j.1399-0004.2009.01159.x