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Uptodate Reference Title
Von Hippel-Lindau disease transmission from a mosaic parent to child
Von Hippel-Lindau disease transmission from a mosaic parent to child
This illustration highlights that a pathogenic variant that occurs during development can result in an individual who is mosaic for a disease-associated pathogenic variant. If the pathogenic variant is found in a germ cell (sperm or oocyte), the offspring who inherits the pathogenic variant will not be mosaic and may have more severe manifestations of the disorder.