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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Detalhes bibliográficos

Principais autores:	Zhen Li, Wanyu Cheng, Feiyin Zi, Juan Wang, Xiaoyu Huang, Xunlun Sheng, Weining Rong
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2023-11-01
Colecção:	Frontiers in Genetics
Assuntos:	cone–rod dystrophy whole-exome sequencing genotype clinical phenotype variant
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1157156/full
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