Media type: E-Article Title: Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation Contributor: Colavito, Davide; Del Giudice, Elda; Ceccato, Chiara; Dalle Carbonare, Maurizio; Leon, Alberta; Suppiej, Agnese Published: Springer Science and Business Media LLC, 2018 Published in: Journal of Human Genetics, 63 (2018) 6, Seite 779-781 Language: English DOI: 10.1038/s10038-018-0434-y ISSN: 1434-5161; 1435-232X Origination: Footnote: Access State: Open Access