New Cases Expand Understanding of CBX1-Related Neurodevelopmental Syndrome
Three new cases of CBX1-related syndrome reveal novel gene variants linked to developmental delays and speech impairments, expanding understanding of this rare neurodevelopmental disorder.
New Insights Into DHX30-Related Neurodevelopmental Disorder: Case Report and Comprehensive Review
A new case report and review expand understanding of DHX30-related neurodevelopmental disorder, highlighting a novel ear anomaly and reinforcing the role of whole exome sequencing in diagnosis.
Autism-Associated Genetic Variants Alter Protein Interaction Networks
Research reveals that autism-associated genetic variants disrupt previously unknown clusters of interacting proteins, offering new insights into ASD biology.