A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease
Here, we describe affected members of a 2-generation family with a Stargardt disease–like phenotype caused by a 2–base pair deletion insertion, c.1014_1015delGAinsCT;p.(Trp338_Asn339delinsCysTyr), in BEST1. The variant was identified by whole-exome sequencing, and its pathogenicity was verified thro...
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| Principais autores: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical investigation
2022-12-01
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| coleção: | JCI Insight |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1172/jci.insight.162687 |
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