A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness

Background: CACNA1F-related disorders encompass progressive and non-progressive disorders, including Åland island eye disease and incomplete congenital stationary night blindness. These two X-linked disorders are characterized by nystagmus, color vision defect, myopia, and electroretinography (ERG)...

Descripción completa

Detalles Bibliográficos
Autores principales: Mahmood, Usman, Méjécase, Cécile, Ali, Syed M. A., Moosajee, Mariya, Kozak, Igor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7911795/
https://www.ncbi.nlm.nih.gov/pubmed/33513752
http://dx.doi.org/10.3390/genes12020171

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7911795/
https://www.ncbi.nlm.nih.gov/pubmed/33513752
http://dx.doi.org/10.3390/genes12020171

Ejemplares similares