A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis

Purpose: We aim to analyze the clinical and genetic features in a Chinese family with congenital retinoschisis by whole-exome sequencing and comprehensive clinical examination. Methods: Six members were recruited from a Chinese family. Three of them were diagnosed as congenital retinoschisis, includ...

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Detalles Bibliográficos
Autores principales: Wang, Xiao-Fang, Chen, Fei-Fei, Zhou, Xin, Cheng, Xin-Xuan, Xie, Zheng-Gao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9538544/
https://www.ncbi.nlm.nih.gov/pubmed/36212125
http://dx.doi.org/10.3389/fgene.2022.993157

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9538544/
https://www.ncbi.nlm.nih.gov/pubmed/36212125
http://dx.doi.org/10.3389/fgene.2022.993157

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