A Mutation in <i>ZNF143</i> as a Novel Candidate Gene for Endothelial Corneal Dystrophy

A Mutation in <i>ZNF143</i> as a Novel Candidate Gene for Endothelial Corneal Dystrophy

Corneal dystrophies (CDs) are a diverse group of inherited disorders with a heterogeneous genetic background. Here, we report the identification of a novel <i>ZNF143</i> heterozygous missense mutation in three individuals of the same family with clinical and pathological features that ar...

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Bibliographic Details
Main Authors: Yonggoo Kim, Hye Jin You, Shin Hae Park, Man Soo Kim, Hyojin Chae, Joonhong Park, Dong Wook Jekarl, Jiyeon Kim, Ahlm Kwon, Hayoung Choi, Yeojae Kim, A Rome Paek, Ahwon Lee, Jung Min Kim, Seon Young Park, Yonghwan Kim, Keehyoung Joo, Jooyoung Lee, Jongsun Jung, So-Hyang Chung, Jee Won Mok, Myungshin Kim
Format: Article
Language:English
Published: MDPI AG 2019-08-01
Series:Journal of Clinical Medicine
Subjects:
<i>ZNF143</i> gene
endothelial corneal dystrophy
posterior polymorphous corneal dystrophy (PPCD)
novel mutation
reverse epithelial-to-mesenchymal transition (reverse EMT)
three-dimensional modeling
array-comparative genomic hybridization (CGH)
whole exome sequencing (WES)
transfection
Online Access:https://www.mdpi.com/2077-0383/8/8/1174

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https://www.mdpi.com/2077-0383/8/8/1174

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