Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. The purpose of the study was to characterize the retinal phenotype of 18 ADGRV1 patients (9 male, 9 female; median age 52 years) and compare it with that of 204 USH2A pati...

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Detalles Bibliográficos
Autores principales: Fakin, Ana, Bonnet, Crystel, Kurtenbach, Anne, Mohand-Said, Saddek, Zobor, Ditta, Stingl, Katarina, Testa, Francesco, Simonelli, Francesca, Sahel, José-Alain, Audo, Isabelle, Zrenner, Eberhart, Hawlina, Marko, Petit, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509029/
https://www.ncbi.nlm.nih.gov/pubmed/34638692
http://dx.doi.org/10.3390/ijms221910352

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509029/
https://www.ncbi.nlm.nih.gov/pubmed/34638692
http://dx.doi.org/10.3390/ijms221910352

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