Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome Academic Article uri icon

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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.

authors

  • Kluijt, I
  • de Jong, D
  • Teertstra, HJ
  • Axwijk, PH
  • Gille, JJP
  • Bell, Kathleen
  • van Rens, A
  • van der Velden, AWG
  • Middelton, L
  • Horenblas, S

publication date

  • June 2009

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