C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases-Reference-Cited by-同舟云学术

C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases

Published:2023-03 Issue:3 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Shinbashi Meagan¹^ORCID,Jewell Ann²,Randolph Jessica²³⁴,Couser Natario²³⁴^ORCID

Affiliation:

1. Virginia Commonwealth University School of Medicine Virginia Richmond USA

2. Department of Human and Molecular Genetics Virginia Commonwealth University School of Medicine Virginia Richmond USA

3. Department of Ophthalmology Virginia Commonwealth University School of Medicine Virginia Richmond USA

4. Department of Pediatrics Virginia Commonwealth University School of Medicine, Children's Hospital of Richmond at VCU Virginia Richmond USA

Abstract

AbstractVariants in the C21orf2 (CFAP410) gene have recently been associated with the development of retinitis pigmentosa, an inherited condition characterized by degeneration of the retina. In this article, we describe 34 previously reported cases of C21orf2 variant‐associated retinopathies and present two new suspected cases.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7110

Reference22 articles.

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2. Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities

3. Sector retinitis pigmentosa: report of ten cases and a review of the literature;Coussa RG;Mol Vis,2019

4. Genes and mutations causing retinitis pigmentosa

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