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Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature

Corneal dystrophies (CDs) represent a group of inherited diseases characterized by the progressive deposit of abnormal materials in the cornea. This study aimed to describe the variant landscape of 15 genes responsible for CDs based on a cohort of Chinese families and a comparative analysis of liter...

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Detalles Bibliográficos
Autores principales: Zhu, Di, Wang, Junwen, Wang, Yingwei, Jiang, Yi, Li, Shiqiang, Xiao, Xueshan, Wang, Panfeng, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10003302/
https://www.ncbi.nlm.nih.gov/pubmed/36902444
http://dx.doi.org/10.3390/ijms24055012

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