Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus

Purpose: Congenital nystagmus (CN) is a genetically and clinically heterogeneous ocular disorder that manifests as involuntary, periodic oscillations of the eyes. To date, only FRMD7 and GPR143 have been reported to be responsible for causing CN. Here, we aimed to identify the disease-causing mutati...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Xiao-Fang, Chen, Hui, Huang, Peng-Juan, Feng, Zhuo-Kun, Hua, Zi-Qi, Feng, Xiang, Han, Fang, Xu, Xiao-Tao, Shen, Ren-Juan, Li, Yang, Jin, Zi-Bing, Yu, Huan-Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7958879/
https://www.ncbi.nlm.nih.gov/pubmed/33732697
http://dx.doi.org/10.3389/fcell.2021.627295

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7958879/
https://www.ncbi.nlm.nih.gov/pubmed/33732697
http://dx.doi.org/10.3389/fcell.2021.627295

Ejemplares similares