Instability of TCF4 Triplet Repeat Expansion With Parent–Child Transmission in Fuchs' Endothelial Corneal Dystrophy

PURPOSE: Fuchs' endothelial corneal dystrophy (FECD) caused by the CTG triplet repeat expansion in the TCF4 gene (CTG18.1 locus) is the most common repeat expansion disorder. Intergenerational instability of expanded repeats and clinical anticipation are hallmarks of other repeat expansion diso...

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Bibliographic Details
Published in:Invest Ophthalmol Vis Sci
Main Authors: Saade, Joanna S., Xing, Chao, Gong, Xin, Zhou, Zhengyang, Mootha, V. Vinod
Format: Artigo
Language:Inglês
Published: The Association for Research in Vision and Ophthalmology 2018
Subjects:
Cornea
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6088802/
https://ncbi.nlm.nih.gov/pubmed/30098193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.18-24119
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