Article
Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.
Ophthalmic genetics - 1 Jun 2023
Hemptinne Coralie, Willermain François, de Jong Casper, Postolache Lavinia, Postelmans Laurence
Abstract excerpt
No abstract is available from the source.
Topics
- Humans
- Bestrophins
- Chloride Channels
- Eye Diseases, Hereditary
- Eye Proteins
- Mutation
- Retinal Diseases
- Tomography, Optical Coherence
