A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL

A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL

Introduction: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal-dominant systemic vascular disease that primarily involves small arteries. Patients with CADASIL experience migraines, recurrent ischemic strokes, cognitive decline, and...

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Bibliographic Details
Main Authors: Juyi Li, Tao Luo, Xiufang Wang, Mengjie Wang, Tao Zheng, Xiao Dang, Aiping Deng, Youzhi Zhang, Sheng Ding, Ping Jing, Lin Zhu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Genetics
Subjects:
CADASIL
whole-exome-sequencing
heterozygous
Notch3
treatment scheme
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.943117/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.943117/full

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