Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA was extracted from blood and exome sequencing was pe...

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Detalles Bibliográficos
Autores principales: Dudakova, Lubica, Skalicka, Pavlina, Davidson, Alice E., Sadan, Amanda N., Chylova, Monika, Jahnova, Helena, Anteneova, Nicole, Tesarova, Marketa, Honzik, Tomas, Liskova, Petra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8702069/
https://www.ncbi.nlm.nih.gov/pubmed/34946867
http://dx.doi.org/10.3390/genes12121918

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8702069/
https://www.ncbi.nlm.nih.gov/pubmed/34946867
http://dx.doi.org/10.3390/genes12121918

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