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  • Title: Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome.
    Author: Kluijt I, de Jong D, Teertstra HJ, Axwijk PH, Gille JJ, Bell K, van Rens A, van der Velden AW, Middelton L, Horenblas S.
    Journal: Clin Genet; 2009 Jun; 75(6):537-43. PubMed ID: 19320655.
    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.
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