Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion

PURPOSE: To characterize inheritance, penetrance, and trinucleotide repeat expansion stability in Fuchs endothelial corneal dystrophy (FECD). METHODS: One thousand unrelated and related subjects with and without FECD were prospectively recruited. CTG18.1 repeat length (CTG18.1(L)) was determined via...

Descripción completa

Detalles Bibliográficos
Autores principales: Xu, Timothy T., Li, Yi-Ju, Afshari, Natalie A., Aleff, Ross A., Rinkoski, Tommy A., Patel, Sanjay V., Maguire, Leo J., Edwards, Albert O., Brown, William L., Fautsch, Michael P., Wieben, Eric D., Baratz, Keith H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2021
Materias:
Cornea
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814354/
https://www.ncbi.nlm.nih.gov/pubmed/33444430
http://dx.doi.org/10.1167/iovs.62.1.17

Ejemplares similares

Ejemplares similares