Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

PURPOSE: Inherited retinal diseases are a group of clinically and genetically heterogeneous disorders with approximately 270 genes involved. IMPG2 is associated with adult-onset vitelliform macular dystrophy. Here, we investigated two unrelated patients with vitelliform macular dystrophy to identify...

Descripción completa

Detalles Bibliográficos
Autores principales: Vázquez-Domínguez, Irene, Li, Catherina H. Z., Fadaie, Zeinab, Haer-Wigman, Lonneke, Cremers, Frans P. M., Garanto, Alejandro, Hoyng, Carel B., Roosing, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150824/
https://www.ncbi.nlm.nih.gov/pubmed/35608844
http://dx.doi.org/10.1167/iovs.63.5.27

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9150824/
https://www.ncbi.nlm.nih.gov/pubmed/35608844
http://dx.doi.org/10.1167/iovs.63.5.27

Ejemplares similares