Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance

Purpose: To investigate pathogenic variants in six families with cone–rod dystrophy (CORD) presenting various inheritance patterns by using whole-exome sequencing (WES) and analyzing phenotypic features. Methods: A total of six families with CORD were enrolled in Ningxia Eye Hospital for this study....

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Detalles Bibliográficos
Autores principales: Li, Zhen, Cheng, Wanyu, Zi, Feiyin, Wang, Juan, Huang, Xiaoyu, Sheng, Xunlun, Rong, Weining
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10652761/
https://www.ncbi.nlm.nih.gov/pubmed/38028590
http://dx.doi.org/10.3389/fgene.2023.1157156

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10652761/
https://www.ncbi.nlm.nih.gov/pubmed/38028590
http://dx.doi.org/10.3389/fgene.2023.1157156

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