Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants

Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants

Abstract In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through Whole Exome Sequencing (WES) and Sanger verification, 17 probands carrying homozygous variants were detected. The association between...

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Bibliographic Details
Main Authors: Xue Fan, Zhen Li, Lingzhi Sha, Xunlun Sheng, Weining Rong
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:Scientific Reports
Subjects:
Inherited retinal dystrophies
Homozygous variation
Genotype
Clinical phenotype
Consanguineous marriage
Online Access:https://doi.org/10.1038/s41598-025-87844-5
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