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Clinical and genetic features of a case with juvenile onset sandhoff disease

Jin-Hui Yin1,2, Wen-Zheng Hu1,2, Yue Huang3,4,5

  • 1Beijing Tiantan Hospital, China National Clinical Research Center for Neurological Diseases, Capital Medical University, Beijing, 100070, PR China.

BMC Neurology
|June 21, 2023
PubMed
Abstract

Keywords:
AtaxiaCopy number variation (CNV) variantHEXBHemizygous variationSandhoff disease

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