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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Pubblicato in:Genes (Basel)
Autori principali: Di Iorio, Valentina, Karali, Marianthi, Brunetti-Pierri, Raffaella, Filippelli, Mariaelena, Di Fruscio, Giuseppina, Pizzo, Mariateresa, Mutarelli, Margherita, Nigro, Vincenzo, Testa, Francesco, Banfi, Sandro, Simonelli, Francesca
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2017
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5664130/
https://ncbi.nlm.nih.gov/pubmed/29053603
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes8100280
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