小脑共济失调、神经病和前庭无反射综合征：韩国首例基因确诊病例 - Suppr

Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome: The First Genetically Confirmed Case in South Korea.

作者信息

Yun So-Yeon, Choi Seo Young, Lee Jin-Ok, Kim Hyo-Jung, Kim Ji-Soo

机构信息

Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Busan, Korea.

出版信息

J Clin Neurol. 2024 Nov;20(6):630-633. doi: 10.3988/jcn.2024.0232.

DOI:10.3988/jcn.2024.0232

PMID:39505317

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11543391/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ed7/11543391/e2a0e685484e/jcn-20-630-g001.jpg

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Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.

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Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome: The First Genetically Confirmed Case in South Korea.

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