Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IRDs) representing 50% of deaf-blindness. All subtypes include retinitis pigmentosa, sensorineural hearing loss, and vestibular abnormalities. Thorough phenotypin...

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Detalles Bibliográficos
Autores principales: Stephenson, Kirk A. J., Whelan, Laura, Zhu, Julia, Dockery, Adrian, Wynne, Niamh C., Cairns, Rebecca M., Kirk, Claire, Turner, Jacqueline, Duignan, Emma S., O'Byrne, James J., Silvestri, Giuliana, Kenna, Paul F., Farrar, G. Jane, Keegan, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362925/
https://www.ncbi.nlm.nih.gov/pubmed/37466950
http://dx.doi.org/10.1167/iovs.64.10.23

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362925/
https://www.ncbi.nlm.nih.gov/pubmed/37466950
http://dx.doi.org/10.1167/iovs.64.10.23

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