Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Aland Island Eye Disease[original query] |
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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. Genes 2021 1 12 (2): . Mahmood Usman, Méjécase Cécile, Ali Syed M A, Moosajee Mariya, Kozak Ig |
Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness. Experimental eye research 2022 6 221 109143. Mihalich Alessandra, Cammarata Gabriella, Tremolada Gemma, Pollazzon Marzia, Di Blasio Anna Maria, Marzoli Stefania Bianc |
- Page last reviewed:Feb 1, 2024
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