Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss

Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss

Background: Retinitis pigmentosa (RP) is a group of progressive inherited retinal dystrophies characterized by the primary degeneration of rod photoreceptors and the subsequent loss of cone photoreceptors because of cell death. It is caused by different mechanisms, including inflammation, apoptosis,...

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Bibliographic Details
Main Authors: Yanxia Huang, Lamei Yuan, Guiyun He, Yanna Cao, Xiong Deng, Hao Deng
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
compound heterozygous variants
retinitis pigmentosa
usherin gene
whole exome sequencing
photoreceptor cell death
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2023.1129862/full

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