Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases

Mutations in the photoreceptor-specific C2orf71 gene (also known as photoreceptor cilium actin regulator protein PCARE) cause autosomal recessive retinitis pigmentosa type 54 and cone-rod dystrophy. No treatments are available for patients with C2orf71 retinal ciliopathies exhibiting a severe clinic...

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Detalles Bibliográficos
Autores principales: Zufiaurre-Seijo, Maddalen, García-Arumí, José, Duarri, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341768/
https://www.ncbi.nlm.nih.gov/pubmed/37445847
http://dx.doi.org/10.3390/ijms241310670

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341768/
https://www.ncbi.nlm.nih.gov/pubmed/37445847
http://dx.doi.org/10.3390/ijms241310670

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