Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene-Reference-Cited by-同舟云学术

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Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene

Published:2022-09-04 Issue: Volume: Page:1-3
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Hemptinne Coralie¹,Willermain François¹²,de Jong Casper³,Postolache Lavinia³,Postelmans Laurence¹

Affiliation:

1. Ophthalmology Department, CHU Brugmann, Université Libre de Bruxelles, Brussels, Belgium

2. Ophthalmology Department, CHU Saint-Pierre, Université Libre de Bruxelles, Brussels, Belgium

3. Ophthalmology Department, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium

Funder

The author(s) reported there is no funding associated with the work featured in this article

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2116649

Reference8 articles.

1. Bestrophin 1 and retinal disease

2. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium

3. Bestrophinopathy: An RPE-photoreceptor interface disease

4. Expression of bestrophin‐1, the product of the VMD2 gene, modulates voltage‐dependent Ca 2+ channels in retinal pigment epithelial cells

5. The Role of Bestrophin-1 in Intracellular Ca2+ Signaling

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