Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure
Mersedeh Rohanizadegan(Boston Children's Hospital), Olaf A. Bodamer(Broad Institute), Marilyn R. Sanders(Connecticut Children's Medical Center), Ivana Mihalek(Boston Children's Hospital), Megan Cho, Sara M. Abdo(Helwan University), Peggy Chen(Connecticut Children's Medical Center), Christina Hung(Boston Children's Hospital), Anne O’Donnell‐Luria(Broad Institute), Kristen T. Leeman(Boston Children's Hospital)
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