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...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2021
Assuntos:
Cornea
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7814354/
https://ncbi.nlm.nih.gov/pubmed/33444430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.62.1.17
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