Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing

Dopa-responsive dystonia, a rare disorder typically presenting in early childhood with lower limb dystonia and gait abnormality, responds well to levodopa. However, it is often misdiagnosed with the wide spectrum of phenotypes. By exome sequencing, we make a rapid genetic diagnosis for two atypical...

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Detalhes bibliográficos
Main Authors: Sun, Zhan-fang, Zhang, Yu-han, Guo, Ji-feng, Sun, Qi-ying, Mei, Jun-pu, Zhou, Han-lin, Guan, Li-ping, Tian, Jin-yong, Hu, Zheng-mao, Li, Jia-da, Xia, Kun, Yan, Xin-xiang, Tang, Bei-sha
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4152247/
https://ncbi.nlm.nih.gov/pubmed/25181484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0106388
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