DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autism.

One of the three most frequently documented copy number variations associated with autism spectrum disorder (ASD) is a 1q21.1 duplication that encompasses sequences encoding DUF1220 protein domains, the dosage of which we previously implicated in increased human brain size. Further, individuals with...

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Bibliographic Details
Main Authors: Jonathan M Davis, Veronica B Searles, Nathan Anderson, Jonathon Keeney, Laura Dumas, James M Sikela
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3961203?pdf=render