Pathogenic mutations disrupt stress granules assembly in patients with DDX3X neurodevelopmental disorder.
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DOI: 10.1093/hmg/ddaf083
Abstract: DDX3X neurodevelopmental disorder (DDX3X-NDD) represents a recently identified genetic syndrome characterized by intellectual disability (ID) and developmental delays, primarily caused by pathogenic variants in the DDX3X gene. The physiological ramifications of these mutations remain largely… read more here.
Keywords: ddx3x; neurodevelopmental disorder; stress; stress granules ... See more keywords