Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene

Variants in WDR19 (IFT144) have been implicated as another possible cause of Stargardt disease. The purpose of this study was to compare longitudinal multimodal imaging of a WDR19-Stargardt patient, harboring p.(Ser485Ile) and a novel c.(3183+1_3184-1)_(3261+1_3262-1)del variant, with 43 ABCA4-Starg...

Descripción completa

Detalles Bibliográficos
Autores principales: Sajovic, Jana, Meglič, Andrej, Volk, Marija, Maver, Aleš, Jarc-Vidmar, Martina, Hawlina, Marko, Fakin, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957452/
https://www.ncbi.nlm.nih.gov/pubmed/36833218
http://dx.doi.org/10.3390/genes14020291

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957452/
https://www.ncbi.nlm.nih.gov/pubmed/36833218
http://dx.doi.org/10.3390/genes14020291

Ejemplares similares