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Genetic spectrum of retinal dystrophies in Tunisia
We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype–phenotype correlations. A subset of 26 families from a cohort of 73 families with clinical diagnosis of autosomal...
Enregistré dans:
| Publié dans: | Sci Rep |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group UK
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7343876/ https://ncbi.nlm.nih.gov/pubmed/32641690 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-67792-y |
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