Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome

Duane retraction syndrome (DRS) is a neuromuscular dysfunction of the eyes. Although many causative genes of DRS have been identified in Europe and the United States, few reports have been published in regard to Chinese DRS. The aim of the present study was to explore the genetic defect of DRS in a...

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Detalles Bibliográficos
Autores principales: Zhou, Tai-Cheng, Duan, Wen-Hua, Fu, Xiao-Lin, Zhu, Qin, Guo, Li-Yun, Zhou, Yuan, Hua, Zhi-Juan, Li, Xue-Jiao, Yang, Dong-Mei, Zhang, Jie-Ying, Yin, Jie, Zhang, Xiao-Fan, Zhou, Guang-Long, Hu, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7531002/
https://www.ncbi.nlm.nih.gov/pubmed/33004823
http://dx.doi.org/10.1038/s41598-020-73190-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7531002/
https://www.ncbi.nlm.nih.gov/pubmed/33004823
http://dx.doi.org/10.1038/s41598-020-73190-1

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