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...

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Detalles Bibliográficos
Autores principales: Habibi, Imen, Falfoul, Yosra, Turki, Ahmed, Hassairi, Asma, El Matri, Khaled, Chebil, Ahmed, Schorderet, Daniel F., El Matri, Leila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7343876/
https://www.ncbi.nlm.nih.gov/pubmed/32641690
http://dx.doi.org/10.1038/s41598-020-67792-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7343876/
https://www.ncbi.nlm.nih.gov/pubmed/32641690
http://dx.doi.org/10.1038/s41598-020-67792-y

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