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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Rohanizadegan, Mersedeh, Abdo, Sara M., O'Donnell-Luria, Anne, Mihalek, Ivana, Chen, Peggy, Sanders, Marilyn, Leeman, Kristen, Cho, Megan, Hung, Christina, Bodamer, Olaf
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2017
Assuntos:
Research Report
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados