Article
A Genetic Bridge Between Medicine and Neurodiversity for Autism.
Annual review of genetics - 1 Nov 2024
Leblond Claire S, Rolland Thomas, Barthome Eli, Mougin Zakaria, Fleury Mathis, Ecker Christine, Bonnot-Briey Stéf, Cliquet Freddy, Tabet Anne-Claude, Maruani Anna, Chaumette Boris, Green Jonathan, Delorme Richard, Bourgeron Thomas
Abstract excerpt
Autism represents a large spectrum of diverse individuals with varying underlying genetic architectures and needs. For some individuals, a single de novo or ultrarare genetic variant has a large effect on the intensity of specific dimensions of the phenotype, while, for others, a combination of thousands of variants commonly found in the general population are involved. The variants with large impact are found in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
