NOTCH3 mutations may promote the clinical presentation caused by mutations in DAB1

In addition to conventional diagnostic methods, next-generation sequencing (NGS) and Sanger sequencing were performed to de\ufb01ne and con\ufb01rm the DAB1 and NOTCH3 gene mutation for a Chinese pedigree. Bioinformatics analysis was also applied for the mutated DAB1 and NOTCH3 protein using available software tools.