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Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia

Background: The aim of this study was to investigate the genetic and clinical features of dopa-responsive dystonia (DRD) in China. Method: Characteristics of gene mutations and clinical manifestations of 31 patients diagnosed with DRD were analyzed retrospectively. Result: From January 2000 to Janua...

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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Chen, Yan, Bao, Xinhua, Wen, Yongxin, Wang, Jiaping, Zhang, Qingping, Yan, Jiayou
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7058807/
https://ncbi.nlm.nih.gov/pubmed/32185155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00083
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