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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)...

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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

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