Genetic spectrum of retinal dystrophies in Tunisia

Abstract 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...

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Bibliographic Details
Main Authors: Imen Habibi, Yosra Falfoul, Ahmed Turki, Asma Hassairi, Khaled El Matri, Ahmed Chebil, Daniel F. Schorderet, Leila El Matri
Format: article
Language:EN
Published: Nature Portfolio 2020
Subjects:
R
Q
Online Access:https://doaj.org/article/265ffa3b52364d2eb4761790714b5dc7
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