A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report

BACKGROUND: Cone-rod dystrophy (CORD) is an inherited, progressive retinal disorder with genetic and phenotypic heterogeneity. Here, we aimed to identify the pathogenic mutation in affected individuals in a Chinese family with autosomal dominant cone-rod dystrophy (adCORD). METHODS: Genomic DNA and...

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Detalles Bibliográficos
Autores principales: Wang, Lihua, Qi, Anhui, Pan, Hong, Liu, Beihong, Feng, Jingjing, Chen, Wei, Wang, Binbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133598/
https://www.ncbi.nlm.nih.gov/pubmed/30095615
http://dx.doi.org/10.1097/MD.0000000000011499

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133598/
https://www.ncbi.nlm.nih.gov/pubmed/30095615
http://dx.doi.org/10.1097/MD.0000000000011499

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