A new GeneReview article for BHD Syndrome is available through the NCBI here. The article describes the disease characteristics, diagnosis and management of BHD Syndrome which you may find useful.
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Hi. Cousins of my father had genetic testing done a couple weeks ago, and just alerted us now of the gene mutation in the family. My father has not done the genetic testing yet, but he also does not have the apparent symptoms a typical BHD person would show (not that it means he doesn’t have it). What I’m wondering is if he has the testing done and shows to not have the gene mutation, does that mean that I, and my children, are in the clear? Or can the gene mutation skip a generation? Thank you for all your work on this and for your help! -Terra, MN