Evidence for genetic anticipation in vonHippel-Lindau syndrome.

Laura AronoffDavid MalkinKalene van EngelenBailey GallingerJonathan WassermanRaymond H KimAnita VillaniM Stephen MeynHarriet Druker

Published in: Journal of medical genetics (2018)

Our results suggest that vHL telomere abnormalities may be primarily somatic in origin rather than a cause of GA. As tumour development exhibits GA in our cohort, vHL surveillance guidelines may need to account for a patient's generational position within a vHL pedigree.

Keyphrases

pet ct
case report
copy number
public health
genome wide
gene expression