Macular maldevelopment in ATF6-mediated retinal dysfunction-Reference-Cited by-同舟云学术

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Macular maldevelopment in ATF6-mediated retinal dysfunction

Published:2019-11-02 Issue:6 Volume:40 Page:564-569
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Ritter Markus¹²^ORCID,Arno Gavin³,Ba-Abbad Rola¹³,Holder Graham E.¹³⁴,Webster Andrew R.¹³^ORCID

Affiliation:

1. Moorfields Eye Hospital, London, UK

2. Department of Ophthalmology, Medical University of Vienna, Vienna, Austria

3. UCL Institute of Ophthalmology, University College London, London, UK

4. National University of Singapore, Department of Ophthalmology, National University Hospital, Singapore

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1706749

Reference32 articles.

1. The cone dysfunction syndromes: Table 1

2. CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

3. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

4. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

5. Retinal Structure and Function in Achromatopsia

Cited by 4 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. PRPS1 -associated retinopathy: a diagnostic odyssey;Ophthalmic Genetics;2024-04-15

2. Novel ATF6 homozygous variant in a Chinese patient with achromatopsia;Ophthalmic Genetics;2024-02-29

3. Pre-Descemet’s endothelial keratoplasty with glued intraocular lens implantation with pinhole pupilloplasty in a case of ocular comorbidity in achromatopsia;Taiwan Journal of Ophthalmology;2024-01

4. Long-Term Investigation of Retinal Function in Patients with Achromatopsia;Investigative Opthalmology & Visual Science;2020-09-22

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