Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

We performed a clinical and genetic characterization of a pediatric cohort of patients with inherited retinal dystrophy (IRD) to identify the most suitable cases for gene therapy. The cohort comprised 43 patients, aged between 2 and 18 years, with severe isolated IRD at the time of presentation. The...

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Bibliographic Details
Main Authors: Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli
Format: Article
Language:English
Published: MDPI AG 2017-10-01
Series:Genes
Subjects:
inherited retinal dystrophies
early onset
next generation sequencing
genotype-phenotype correlation
retinitis pigmentosa
Leber congenital amaurosis
achromatopsia
ellipsoid zone
Online Access:https://www.mdpi.com/2073-4425/8/10/280

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https://www.mdpi.com/2073-4425/8/10/280

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