Novel Mutation in the Gene Causing Hypomyelinating Leukodystrophy in an Adult.
作者信息
Yadav Nishtha, Saini Jitender, Nagappa Madhu
机构信息
Department of Radiology (NY), Super Speciality Hospital, NSCB Medical College, Jabalpur; Department of Neuroimaging and Interventional Radiology (JS), and Department of Neurology (MN), National Institute of Mental Health and Neurosciences, Bengaluru, India.
出版信息
Neurol Clin Pract. 2021 Jun;11(3):e367-e369. doi: 10.1212/CPJ.0000000000001002.
Abstract
摘要
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3
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.编码 RNA 聚合酶 I 和 III 亚基的基因突变会导致特雷彻·柯林斯综合征。
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