What is the cause of von Hippel-Lindau (VHL) disease?

Updated: Aug 10, 2018
  • Author: Michael A Blake, MBBCh, MRCPI, FRCR; Chief Editor: George T Griffing, MD  more...
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Answer

VHL disease is caused by mutations in the VHL gene. [16]  This gene encodes a protein that plays a role in cilia formation, regulation of cellular senescence, and the oxygen-sensing pathway.


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