Cargando…
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...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
|
| Materias: | |
| 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 |