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

Variants 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...

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Detalles Bibliográficos
Autores principales: Shinbashi, Meagan, Jewell, Ann, Randolph, Jessica, Couser, Natario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10025249/
https://www.ncbi.nlm.nih.gov/pubmed/36950666
http://dx.doi.org/10.1002/ccr3.7110
Descripción
Sumario:Variants 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.

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