PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy-Reference-Cited by-同舟云学术

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PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy

Published:2019-09-03 Issue:5 Volume:40 Page:436-442
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Daftarian Narsis¹,Mirrahimi Mehraban¹,Sabbaghi Hamideh²,Moghadasi Afrooz¹,Zal Niloufar³,Dehghan Banadaki Hossein³,Ahmadieh Hamid³,Suri Fatemeh³

Affiliation:

1. Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

2. Ophthalmic Epidemiology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

3. Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1678178

Reference17 articles.

1. The Effect of Peripherin/rds Haploinsufficiency on Rod and Cone Photoreceptors

2. A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

3. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

4. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

Cited by 12 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. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients;Investigative Ophthalmology & Visual Science;2024-05-14

2. PRPH2-Associated Retinopathy;Ophthalmology Retina;2023-05

3. Electrophysiological Evaluation of Macular Dystrophies;Journal of Clinical Medicine;2023-02-10

4. Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations;Vision Research;2023-02

5. Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy;Documenta Ophthalmologica;2023-01-07

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