Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

Background: This study aimed to compare phenotype–genotype correlation in patients with Usher syndrome (USH) to those with autosomal recessive retinitis pigmentosa (NS-ARRP) caused by genes associated with Usher syndrome. Methods: Case notes of patients with USH or NS-ARRP and a molecularly confirme...

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Detalles Bibliográficos
Autores principales: Feenstra, Helena M., Al-Khuzaei, Saoud, Shah, Mital, Broadgate, Suzanne, Shanks, Morag, Kamath, Archith, Yu, Jing, Jolly, Jasleen K., MacLaren, Robert E., Clouston, Penny, Halford, Stephanie, Downes, Susan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407802/
https://www.ncbi.nlm.nih.gov/pubmed/36011334
http://dx.doi.org/10.3390/genes13081423

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407802/
https://www.ncbi.nlm.nih.gov/pubmed/36011334
http://dx.doi.org/10.3390/genes13081423

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