A Genotype-Phenotype Analysis of Usher Syndrome in Puerto Rico: A Case Series

Introduction Patients with Usher syndrome (USH) have retinitis pigmentosa (RP) and hearing loss inherited as an autosomal recessive (ar) trait. Mutations in the USH2A gene are the most common cause of Usher syndrome. We report the genotype-phenotype correlation in 10 patients with Usher syndrome fro...

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Detalles Bibliográficos
Autores principales: Santos, David F, Molina Thurin, Leonardo J, Gustavo Vargas, José, Izquierdo, Natalio J, Oliver, Armando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Ophthalmology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392863/
https://www.ncbi.nlm.nih.gov/pubmed/36003347
http://dx.doi.org/10.7759/cureus.28213

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392863/
https://www.ncbi.nlm.nih.gov/pubmed/36003347
http://dx.doi.org/10.7759/cureus.28213

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