Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa-Reference-Cited by-同舟云学术

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Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa

Published:2017-01-17 Issue:5 Volume:38 Page:494-497
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Habibi Imen¹²³⁴,Chebil Ahmed²⁵,Kort Fedra²⁵,Schorderet Daniel F.¹⁴⁶,El Matri Leila²⁵

Affiliation:

1. Institute for Research in Ophthalmology (IRO), Sion, Switzerland

2. Research Laboratory of Oculogenetic (LR14SP01), Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia

3. Research Laboratory of Renal Transplantation and Immunopathology (LR03SP01), University Tunis El Manar, Immunology Laboratory, Tunis, Tunisia

4. Faculty of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland

5. Faculty of Medicine, University Tunis El Manar, Tunis, Tunisia

6. Jules-Gonin Eye Hospital, Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland

Funder

Federal Department of Economic Affairs, Education and Research, Switzerland

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2016.1275020

Reference12 articles.

1. Retinitis pigmentosa

2. Clinical and genetic heterogeneity in retinitis pigmentosa

3. Exome sequencing as a tool for Mendelian disease gene discovery

4. Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa

Cited by 6 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. Genetic dissection of non-syndromic retinitis pigmentosa;Indian Journal of Ophthalmology;2022

2. Compound Heterozygous Mutations in ZNF408 in a Patient with a Late Onset Pigmentary Retinopathy and Relatively Preserved Central Retina;Documenta Ophthalmologica;2021-07-14

3. The genetics of rod-cone dystrophy in Arab countries: a systematic review;European Journal of Human Genetics;2020-11-13

4. Genetic spectrum of retinal dystrophies in Tunisia;Scientific Reports;2020-07-08

5. Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene;Ophthalmic Genetics;2020-06-12

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