Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome
- 1 June 2009
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 75 (6) , 537-543
- https://doi.org/10.1111/j.1399-0004.2009.01159.x
Abstract
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 mutatioKeywords
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