Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy
Author:
Affiliation:
1. Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany
2. Department of Ophthalmology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2018.1520263
Reference31 articles.
1. The key role of electrophysiology in the diagnosis of visually impaired children
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3. Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions
4. Congenital Stationary Night Blindness With Negative Electroretinogram
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2. Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature;Genes;2023-02-03
3. Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series;Ophthalmic Genetics;2022-12-05
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