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

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 episodes,...

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Detalles Bibliográficos
Autores principales: Peters, Bianca, Wiemers, Felix, Lenz, Dominic, Kölker, Stefan, Hoffmann, Georg F., Köhler, Siegmund, Staufner, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10159861/
https://www.ncbi.nlm.nih.gov/pubmed/37151364
http://dx.doi.org/10.1002/jmd2.12362

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10159861/
https://www.ncbi.nlm.nih.gov/pubmed/37151364
http://dx.doi.org/10.1002/jmd2.12362

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