As a pediatric neurologist, Elliott Sherr, M.D., Ph.D., has spent a significant portion of his career studying the brains of children with malformations. When a beautiful young girl presented in his clinic with dysgenesis of the corpus callosum, he went above and beyond to help her family find answers – which ended up being a mutation of her DDX3X gene. Today he is going above and beyond for all individuals with DDX3X mutations. Individuals with DDX3X Syndrome are included in his lab’s Brain Development Research Program which seeks to better understand the function of the DDX3X gene.
Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations
Learn more here. 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 […]
Continue ReadingDDX3X-Related Neurodevelopmental Disorder – Research Paper
Learn more via the paper here. GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial […]
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