Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS

Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS

Abstract Biallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene affecting the Sec39 domain are associated with a predominant hepatic phenotype named infantile liver failure syndrome type 2 (ILFS2). Individuals are at risk of developing life‐threatening acute liver failure...

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Bibliographic Details
Main Authors: Bianca Peters, Felix Wiemers, Dominic Lenz, Stefan Kölker, Georg F. Hoffmann, Siegmund Köhler, Christian Staufner
Format: Article
Language:English
Published: Wiley 2023-05-01
Series:JIMD Reports
Subjects:
acute liver failure
birth
infantile liver failure syndrome type 2
neuroblastoma amplified sequence
pregnancy
Online Access:https://doi.org/10.1002/jmd2.12362

Internet

https://doi.org/10.1002/jmd2.12362

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