Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations

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A note from Dr. Silver’s Lab – In this study we found that different types of mutations in DDX3X lead to unique alterations in neural cells. This helps us understand the molecules and cells which are affected in clinically diverse cases of DDX3X Syndrome and is important because understanding which cells and molecules are impacted by different mutations can help scientists prioritize possible biomarkers and future therapeutic strategies. We drafted a brief overview of our findings for families, or you can read the full text of the paper entitled: Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations.