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, Francesco; Sodi, Andrea; Signorini, Sabrina; Di Iorio, Valentina; Murro, Vittoria; Brunetti-Pierri, Raffaella; Valente, Enza Maria; Karali, Marianthi; Melillo, Paolo; Banfi, Sandro; Simonelli, Francesca. - 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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