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

Rapid whole-exome sequencing (rWES) is used in critically ill newborn infants to inform about diagnosis, clinical management, and prognosis. Here we report a male newborn infant with hydrops, pancytopenia, and acute liver failure who was listed for liver transplantation. Given the acuity of the pres...

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Veröffentlicht in:Cold Spring Harb Mol Case Stud
Hauptverfasser: Rohanizadegan, Mersedeh, Abdo, Sara M., O'Donnell-Luria, Anne, Mihalek, Ivana, Chen, Peggy, Sanders, Marilyn, Leeman, Kristen, Cho, Megan, Hung, Christina, Bodamer, Olaf
Format: Artigo
Sprache:Inglês
Veröffentlicht: Cold Spring Harbor Laboratory Press 2017
Schlagworte:
Research Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701306/
https://ncbi.nlm.nih.gov/pubmed/28802248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002147
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