Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephaly

Abstract excerpt

Background Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype gap through the discovery of new genes and variants that help to unravel the pathogenic mechanisms driving neuropathogenesis. One such discovery includes TRIO , a...

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