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.
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study / Testa, F., Sodi, A., Signorini, S., Di Iorio, V., Murro, V., Brunetti-Pierri, R., Valente, E.M., Karali, M., Melillo, P., Banfi, S., Simonelli, F.. - In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. - ISSN 1552-5783. - ELETTRONICO. - 62:(2021), pp. 1-10. [10.1167/iovs.62.9.1]
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study
Sodi, Andrea;Murro, Vittoria;
2021
Abstract
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.
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