Mutations in autism gene may trigger milder effects than does its loss


June 20, 2018

People with mutations in SHANK3 have intellectual disability and other features of Phelan-McDermid syndrome, the condition most closely associated with this gene. However, these individuals tend to have milder traits than do those missing a chunk of DNA that includes the gene, according to a new study.

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https://www.spectrumnews.org/news/mutations-autism-gene-trigger-milder-effects-…