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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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| Publicat a: | Medicine (Baltimore) |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wolters Kluwer Health
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6133598/ https://ncbi.nlm.nih.gov/pubmed/30095615 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000011499 |
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