Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study-Reference-Cited by-同舟云学术

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

Published:2021-07-01 Issue:9 Volume:62 Page:1
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Testa Francesco¹,Sodi Andrea²,Signorini Sabrina³,Di Iorio Valentina¹,Murro Vittoria²,Brunetti-Pierri Raffaella¹,Valente Enza Maria⁴⁵,Karali Marianthi¹⁶,Melillo Paolo¹,Banfi Sandro⁶⁷,Simonelli Francesca¹

Affiliation:

1. Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania “Luigi Vanvitelli”, Naples, Italy

2. Eye Clinic, Neuromuscolar and Sense Organs Department, Careggi University Hospital, Florence, Italy

3. Unit of Child Neurology and Psychiatry, IRCCS C. Mondino Foundation, Pavia, Italy

4. Department of Molecular Medicine, University of Pavia, Pavia, Italy

5. Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy

6. Telethon Institute of Genetics and Medicine, Pozzuoli, Italy

7. Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli”, Naples, Italy

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. An early onset cone dystrophy due to CEP290 mutation: a case report;Documenta Ophthalmologica;2023-08-29

2. Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4;American Journal of Ophthalmology;2023-08

3. An early onset cone dystrophy due to CEP290 mutation: a case report;DOC OPHTHALMOL;2023

4. Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy;Scientific Reports;2022-12-02