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Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review

Inherited retinal dystrophies (IRDs) are a group of rare diseases involving more than 340 genes and a variety of clinical phenotypes that lead to significant visual impairment. The aim of this study is to evaluate the rates and genetic characteristics of IRDs in the southeastern region of the United...

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Detalles Bibliográficos
Autores principales: Griffith, Joseph, Sioufi, Kareem, Wilbanks, Laurie, Magrath, George N., Say, Emil A. T., Lyons, Michael J., Wilkes, Meg, Pai, Gurpur Shashidhar, Peterseim, Mae Millicent Winfrey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407983/
https://www.ncbi.nlm.nih.gov/pubmed/36011402
http://dx.doi.org/10.3390/genes13081490