Publications by authors named "Yanrui Dai"
Case report: A novel FBXW7 gene variant causes global developmental delay.
Front Genet
September 2024
Article Synopsis
- - The study focused on a 2-year-old boy with a neurodevelopmental disorder, characterized by facial dysmorphism, developmental delays, and several physical anomalies.
- - Whole-exome sequencing (trio-WES) and Sanger sequencing identified a novel pathogenic mutation (c.1612C>T) in the patient, linking it to his developmental issues.
- - This case highlights the complexity of the disorder, showing phenotypic variability and contributing new insights into its genetic basis, as such mutations are rare and not widely reported.