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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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Detalles Bibliográficos
Autores principales: Chen, Yan, Bao, Xinhua, Wen, Yongxin, Wang, Jiaping, Zhang, Qingping, Yan, Jiayou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058807/
https://www.ncbi.nlm.nih.gov/pubmed/32185155
http://dx.doi.org/10.3389/fped.2020.00083