title: Whole-exome sequencing of a pediatric patient with Sotos syndrome carrying a novel NSD1 c.3910C>T variant
design: Whole-exome sequencing was performed on genomic DNA extracted from peripheral blood of a male pediatric patient diagnosed with Sotos syndrome. The sequencing aimed to identify pathogenic variants associated with the disease. A paired-end library was prepared and sequenced using a high-throughput sequencing platform.