Article
Genetic spectrum of retinal dystrophies in Tunisia.
Scientific reports - 8 Jul 2020
Habibi Imen, Falfoul Yosra, Turki Ahmed, Hassairi Asma, El Matri Khaled, Chebil Ahmed, Schorderet Daniel F, El Matri Leila
Abstract excerpt
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 recessive IRD (AR-IRD) excluding Usher syndrome was analyzed by whole exome sequencing and autozygosity mapping....
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