Mechanisms underlying phenotypic variation in neurogenetic disorders

Nature Reviews Neurology, Published online: 18 May 2023; doi:10.1038/s41582-023-00811-4Neurological diseases associated with specific pathogenic gene variants can show considerable phenotypic variation. This Review explores the mechanisms that underlie this phenomenon, including environmental, genetic and epigenetic factors that influence the expressivity and penetrance of pathogenic variants.
Source: Nature Reviews Neurology - Category: Neurology Authors: Source Type: research