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Une nouvelle forme d’amaurose congénitale de Leber 

Josseline Kaplan, Isabelle Perrault, Sylvain Hanein, Hélène Dollfus and Jean-Michel Rozet
médecine/sciences 29 (1) 26 (2013)
DOI: 10.1051/medsci/2013291008
See this article