A new de novo mutation in HTRA1 gene associated with painful Ataxia, developmental delay, and autistic behaviors symptoms in an Iranian boy through Whole Exome Sequencing followed by homology modeling
1.1. Introduction: Due to the insufficiency of understanding about Dominant Arteriopathy with Subcortical Infarcts and Leukoen cephalopathy (CADASIL) in general clinical studies, the process of diagnosis for most CADASIL patients is complex and often prolonged. The disease’s symptomatic heterogeneity, which hap pens frequently even among family members, increases the com plexity of diagnosis. 1.2. Methods: […]