An extremely severe phenotype attributed to <i>WDR81</i> nonsense mutations
Gerarda Cappuccio(Telethon Institute Of Genetics And Medicine), Vincenzo Nigro(University of Campania "Luigi Vanvitelli"), Marianna Alagia(Federico II University Hospital), Giuseppina Vitiello(Federico II University Hospital), Michele Pinelli(Radboud University Nijmegen), Ennio Del Giudice(Federico II University Hospital), Alessandra D’Amico(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Annalaura Torella(University of Campania "Luigi Vanvitelli")
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