Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome

por Snanoudj, Sarah, Mordel, Patrick, Dupas, Quentin, Schanen, Cécile, Arion, Alina, Gérard, Marion, Read, Marie‐Hélène, Nait Rabah, Djamel, Goux, Didier, Chapon, Françoise, Jokic, Mickael, Allouche, Stéphane
Publicado 2019