A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D‐LCA phenotype-Reference-Cited by-同舟云学术

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D‐LCA phenotype

Published:2005-01-10 Issue:2 Volume:25 Page:222-222
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Perrault Isabelle¹,Hanein Sylvain¹,Gerber Sylvie¹,Lebail Beatrice²,Vlajnik Patrice²,Barbet Fabienne¹,Ducroq Dominique¹,Dufier Jean‐Louis³,Munnich Arnold¹,Kaplan Josseline¹,Rozet Jean‐Michel¹

Affiliation:

1. Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker ‐ Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France

2. Institut National des Jeunes Aveugles (INJA) Paris, France

3. Service d'Ophtalmologie, Hôpital Necker, France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.9304

Cited by 21 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. Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies;American Journal of Ophthalmology;2023-10

2. Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation;Experimental Eye Research;2021-07

3. Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population;European Journal of Medical Genetics;2020-03

4. GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies;American Journal of Ophthalmology;2020-02

5. A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report;Journal of Current Ophthalmology;2019-12