Novel heterozygous NOTCH3 pathogenic variant found in two Chinese patients with CADASIL.


NOTCH3 mutations have been described to cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Here, we report 2 CADASIL patients from a Chinese family. Whole genome sequencing was performed on the two CADASIL patients. The novel variant c.128G>C in exon 2 of NOTCH3 was identified and confirmed through… (More)
DOI: 10.1016/j.jocn.2017.08.029


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