Associated Papers
Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome: report of a case lacking neutrophil morphologic changes and review of literature.
Jung EH et al.
Ophthalmic Genetics, 2026
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.
Di Pasquale G et al.
Clinical Genetics, 2025
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
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.
Silverstein S et al.
Molecular Genetics and Metabolism, 2025
Protein-Variant-Phenotype Study of NBAS Using AlphaFold in the Aspect of SOPH Syndrome.
Zhozhikov L et al.
Proteins, 2025
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.
Peters B et al.
Journal of Inherited Metabolic Disease, 2025
Hemophagocytic Lymphohistiocytosis in Association With Neuroblastoma Amplified Sequence (NBAS) Gene Variants: A Report of a Rare Case.
Gawhale S et al.
Cureus, 2024
Genetic aetiologies of acute liver failure.
Hegarty R et al.
Journal of Inherited Metabolic Disease, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Autoimmune hemolytic anemia and thrombocytopenia in a Chinese patient with heterozygous NBAS mutations: Case report.
Yang Y et al.
Medicine, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N et al.
Molecular Genetics and Metabolism, 2024
Origins of SOPH syndrome: A study of 93 Yakut patients with review of C-terminal phenotype.
Zhozhikov L et al.
Clinical Genetics, 2023
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.
Priglinger CS et al.
Molecular Genetics & Genomic Medicine, 2023
Case report: A novel cause of acute liver failure in children: A combination of human herpesvirus-6 infection and homozygous mutation in NBAS gene.
Cheng Y et al.
Journal of Clinical Laboratory Analysis, 2022
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
Lenz D et al.
Journal of Clinical Immunology, 2021
Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation.
Park JW et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2021
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.
Suzuki S et al.
European Journal of Medical Genetics, 2020
NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients.
Li ZD et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2020
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.
Li W et al.
Bmc Gastroenterology, 2020
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
Lacassie Y et al.
American Journal of Medical Genetics. Part A, 2020
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
Fischer-Zirnsak B et al.
Journal of Human Genetics, 2019
[A novel compound heterozygous mutation in NBAS gene causes SOPH syndrome and liver function damage].
Gu JL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D et al.
Human Mutation, 2019
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Rius R et al.
Molecular Genetics and Metabolism, 2019
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure.
Ono S et al.
Human Genome Variation, 2019
Autism and heritable bone fragility: A true association?
Balasubramanian M et al.
Bone Reports, 2018
Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure.
Sunwoo Y et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2018
[Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review].
He TY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Kim YM et al.
Clinical Genetics, 2017
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
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
Balasubramanian M et al.
Bone, 2017
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.
Kortüm F et al.
Pediatrics, 2017
[Population frequency and age of mutation G5741→A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic].
Maksimova NR et al.
Genetika, 2016
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Staufner C et al.
Journal of Inherited Metabolic Disease, 2016
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra NG et al.
American Journal of Medical Genetics. Part A, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Haack TB et al.
American Journal of Human Genetics, 2015
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.
Maksimova N et al.
Journal of Medical Genetics, 2010