Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome

por Cabrita Pinto, Rute Luísa, Viaggi, Silvia, Canale, Edoardo, Martinez Popple, Marina, Capra, Valeria, Conteduca, Giuseppina, Testa, Barbara, Coviello, Domenico, Covone, Angela Elvira
Publicado 2023