Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure

por Rohanizadegan, Mersedeh, Abdo, Sara M., O'Donnell-Luria, Anne, Mihalek, Ivana, Chen, Peggy, Sanders, Marilyn, Leeman, Kristen, Cho, Megan, Hung, Christina, Bodamer, Olaf
Publicado 2017