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Article

Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.

BMC neurology - 2 Mar 2020

He Ruojie, Li Huan, Sun Yiming, Chen Menglong, Wang Liang, Zhu Yuling, Zhang Cheng

Abstract excerpt

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations in NOTCH3 gene with remarkable phenotypic heterogeneity. Cases of CADASIL associated with homozygous NOTCH3 mutations are rare and subsequently understudied. In this study, we investigate the genetic and phenotypic features within patients of...

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Identifiers

PMID: 32122318
DOI: 10.1186/s12883-020-01660-0
PMCID: PMC7053106

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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