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The First Indian Patient With Benign Hereditary Chorea due to a De Novo Mutation in the NKX2-1 Gene.

作者信息

Garg Divyani, Agarwal Ayush, Faruq Mohammed, Srivastava Achal Kumar

机构信息

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

Division of Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (IGIB), New Delhi, India.

出版信息

J Mov Disord. 2024 Apr;17(2):239-241. doi: 10.14802/jmd.23273. Epub 2024 Feb 29.

Abstract
摘要

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本文引用的文献

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De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
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