Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy-Reference-Cited by-同舟云学术

Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy

Published:2020-08-18 Issue:6 Volume:41 Page:548-555
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Sun Zixi¹,Wu Shijing¹,Zhu Tian¹,Li Hui¹,Wei Xing¹,Du Hong¹,Sui Ruifang¹

Affiliation:

1. Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China

Funder

National Natural Science Foundation of China

Beijing Natural Science Foundation

CAMS Innovation Fund for Medical Sciences

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1807026

Reference36 articles.

1. Unravelling the genetics of inherited retinal dystrophies: Past, present and future

2. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

3. Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

4. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

5. Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

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1. Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies;American Journal of Ophthalmology;2023-10

2. A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy;Documenta Ophthalmologica;2023-09-29

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4. Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred;Eye;2022-12-12

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