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

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...

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Detalles Bibliográficos
Autores principales:	He, Ruojie, Li, Huan, Sun, Yiming, Chen, Menglong, Wang, Liang, Zhu, Yuling, Zhang, Cheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7053106/ https://www.ncbi.nlm.nih.gov/pubmed/32122318 http://dx.doi.org/10.1186/s12883-020-01660-0

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