Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy-Reference-Cited by-同舟云学术

Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy

Published:2021-04-22 Issue:4 Volume:42 Page:474-479
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Vilaplana Ferran¹^ORCID,Ros Andrea²,Garcia Belen²,Blanco Ignacio²,Castellanos Elisabeth³⁴,Edwards Nicholas John⁵,Valldeperas Xavier¹,Ruiz-Bilbao Susana¹,Sabala Antonio¹

Affiliation:

1. Department of Ophthalmology, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain

2. Genetic Counseling Unit, Genetics Service, Hospital Universitari Germans Trias i Pujol, Barcelona, Spain

3. Clinical Genomics Unit, Genetics Service, Hospital Universitari Germans Trias i Pujol, Barcelona, Spain

4. Hereditary Cancer Group, Germans Trias Research Institute, IGTP, Barcelona, Spain

5. English Studies, Universitat Autònoma de Barcelona, Barcelona, Spain

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1916827

Reference22 articles.

1. RetNet [Internet]. Texas: The University of Texas Health Science Center. 1996–2020. [accessed 2020 Oct 20]. https://sph.uth.edu/retnet/sum-dis.htm#B-diseases.

2. CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study

3. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

4. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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1. Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene;American Journal of Ophthalmology;2023-04