Author

Xintong Su

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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