Female carrier of <i>RPGR</i> mutation presenting with high myopia-Reference-Cited by-同舟云学术

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Female carrier of RPGR mutation presenting with high myopia

Published:2023-07-25 Issue: Volume: Page:1-5
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Seliniotaki Aikaterini K.¹,Ververi Athina²,Koukoula Stavrenia³,Efstathiou Georgios⁴,Gerou Spyridon⁴,Ziakas Nikolaos¹,Mataftsi Asimina¹^ORCID

Affiliation:

1. 2nd Department of Ophthalmology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece

2. Genetic Unit, 1st Gynecological & Obstetrics Department, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece

3. Ophthalmica Eye Institute, Thessaloniki, Greece

4. Analysi Biopathological Diagnostic Research Laboratories, Thessaloniki, Greece

Funder

no funding

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2237571

Reference19 articles.

1. An overview of myopia genetics

2. Myopia Genetics and Heredity

3. Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes

4. Exome sequencing study of 20 patients with high myopia

5. The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

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