A Mutation in ZNF143 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 ZNF143 heterozygous missense mutation in three individuals of the same family with clinical and pathological features that are consistent with e...

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Detalles Bibliográficos
Autores principales: Kim, Yonggoo, You, Hye Jin, Park, Shin Hae, Kim, Man Soo, Chae, Hyojin, Park, Joonhong, Jekarl, Dong Wook, Kim, Jiyeon, Kwon, Ahlm, Choi, Hayoung, Kim, Yeojae, Paek, A Rome, Lee, Ahwon, Kim, Jung Min, Park, Seon Young, Kim, Yonghwan, Joo, Keehyoung, Lee, Jooyoung, Jung, Jongsun, Chung, So-Hyang, Mok, Jee Won, Kim, Myungshin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6723187/
https://www.ncbi.nlm.nih.gov/pubmed/31390831
http://dx.doi.org/10.3390/jcm8081174

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6723187/
https://www.ncbi.nlm.nih.gov/pubmed/31390831
http://dx.doi.org/10.3390/jcm8081174

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