Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

PURPOSE: The purpose of this study was to perform a detailed longitudinal phenotyping and genetic characterization of 32 Italian patients with a nonsyndromic retinal dystrophy and mutations in the CEP290 gene. METHODS: We reviewed the clinical history and examinations of 32 patients with a nonsyndro...

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Vydáno v:Invest Ophthalmol Vis Sci
Hlavní autoři: Testa, Francesco, Sodi, Andrea, Signorini, Sabrina, Di Iorio, Valentina, Murro, Vittoria, Brunetti-Pierri, Raffaella, Valente, Enza Maria, Karali, Marianthi, Melillo, Paolo, Banfi, Sandro, Simonelli, Francesca
Médium: Artigo
Jazyk:Inglês
Vydáno: The Association for Research in Vision and Ophthalmology 2021
Témata:
Retina
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8267213/
https://ncbi.nlm.nih.gov/pubmed/34196655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.62.9.1
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