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Article

Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children.

Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association - 1 Jan 2000

Hasosah Mohammed Y, Iskandarani Alaa I, Shawli Ayman I, Alsahafi Ashraf F, Sukkar Ghassan A, Qurashi Mansour A

Abstract excerpt

Neuroblastoma amplified sequence (NBAS) gene mutation or infantile liver failure syndrome type 2 (ILFS type 2) is an extremely rare disease characterized by episodic liver failure precipitated by intercurrent febrile illness, and liver function recovering completely. Here, we report a 4-year-old girl with recurrent hepatitis. A diagnosis of ILFS type 2 was made based on NBAS mutation gene found by whole-exome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28611345
DOI: 10.4103/1319-3767.207714
PMCID: PMC5470381

Genes

NBAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children.PMID 28611345Read ↗

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Role of a novel neuroblastoma amplified sequence mutation, c.1342T>C (p.Cys448Arg), in an infant with fever-triggered recurrent acute liver failureSemantic proximity Read ↗

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Liver involvement in neuroblastoma amplified sequence gene deficiency is not limited to acute injury: Fibrosis silently continues.Semantic proximity Read ↗

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