A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy-Reference-Cited by-同舟云学术

A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy

Published:2019-03-04 Issue:2 Volume:40 Page:110-117
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Glen W. Bailey¹²,Peterseim M. Millicent W.³,Badilla Ramses⁴⁵,Znoyko Iya¹,Bourg Andre⁶,Wilson Robert¹²,Hardiman Gary²⁶⁷,Wolff Daynna¹,Martinez Joaquin⁵⁸

Affiliation:

1. Pathology and Laboratory Medicine, Medical University of South Carolina

2. Center for Genomic Medicine, Medical University of South Carolina

3. Storm Eye Institute/Department of Ophthalmology, Medical University of South Carolina

4. Genetics and Metabolism, National Children's Hospital, San José, Costa Rica

5. Caja Costarricense del Seguro Social

6. Department of Medicine, Medical University of South Carolina

7. Institute for Global Food Security, Queen's University Belfast

8. Division of Ophthalmology, National Children's Hospital, San José, Costa Rica

Funder

Medical University of South Carolina

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1582069

Reference48 articles.

1. Causes of Blindness and Visual Impairment in Latin America

2. An update on progress and the changing epidemiology of causes of childhood blindness worldwide

3. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

4. Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

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