Publications by authors named "Kyra Eva Stuurman"
Article Synopsis
- Whole-exome sequencing (WES) discovered new genetic variants in chromatin remodeling genes related to neurodevelopmental disorders (NDD) in patients with corpus callosum (CC) abnormalities.
- The study focused on identifying novel genes linked to both CC anomalies and NDD, analyzing patients with rare de novo variants in a specific subunit of the FACT complex.
- Results showed that these variants were previously unreported and associated with symptoms like intellectual disability and seizures, highlighting the gene's role in this new disorder involving neurodevelopmental issues and CC anomalies.*
