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Clin Genet. 2009 Jun;75(6):537-43. doi: 10.1111/j.1399-0004.2009.01159.x. Epub 2009 Mar 23.

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

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Family Cancer Clinic, The Netherlands Cancer Institute/Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.


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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