Case report
Jul 2026
A NOTCH3 p.Gly1105Cys variant in CADASIL: clinical characterization and an updated overview of exon 20 variants
This case provides a detailed clinical and imaging description of CADASIL associated with NOTCH3 c.3313G > T (p.Gly1105Cys) and expands understanding of genotype–phenotype correlations among exon 20 variants and found marked phenotypic heterogeneity across variants and populations.
Xin-Yao Wei, Ling Cui, Li Sun et al.
· Neurological Sciences · 0 citations