Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Peters B et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
40433928 (PubMed )
Supplement: LIV-45-0-s001.xlsx › Tabelle1
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N et al.
Molecular Genetics and Metabolism, 2024
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.
Li W et al.
Bmc Gastroenterology, 2020
Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature.
Khoreva A et al.
Frontiers in Pediatrics, 2020
Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations.
Jiang B et al.
Frontiers in Pediatrics, 2020
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D et al.
Human Mutation, 2019
Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.
Regateiro FS et al.
European Journal of Medical Genetics, 2017
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