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

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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Bibliographic Details
Main Authors: Zhen Li, Wanyu Cheng, Feiyin Zi, Juan Wang, Xiaoyu Huang, Xunlun Sheng, Weining Rong
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Genetics
Subjects:
cone–rod dystrophy
whole-exome sequencing
genotype
clinical phenotype
variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1157156/full

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