Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure

Pediatr Int. 2018 Mar;60(3):302-304. doi: 10.1111/ped.13476.

Authors

Yoon Sunwoo¹, Yoon-Myung Kim², Eun Na Kim³, Seak-Hee Oh², Beom Hee Lee²

Affiliations

¹ Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea.
² Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
³ Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

PMID: 29575310
DOI: 10.1111/ped.13476

No abstract available

Keywords: liver failure; neuroblastoma amplified sequence; skeletal dysplasia.

Publication types

Case Reports

MeSH terms

Genetic Diseases, Inborn / complications
Genetic Diseases, Inborn / diagnosis*
Genetic Diseases, Inborn / genetics
Genetic Markers
Humans
Infant
Liver Failure, Acute / etiology*
Mutation
Neoplasm Proteins / deficiency*
Neoplasm Proteins / genetics
Phenotype
Recurrence
Severity of Illness Index

Substances

Genetic Markers
NBAS protein, human
Neoplasm Proteins