Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure.

BMJ case reports - 4 Feb 2021

Krishnan Sowmya, Rughani Ankur, Tsai Anne, Palle Sirish

Abstract excerpt

Osteogenesis imperfecta (OI) consists of a group of genetically and phenotypically heterogeneous diseases characterised by bone fragility. Recent improvement in gene sequencing methods has helped us identify rare forms of OI that are inherited in an autosomal recessive manner. Paediatric endocrinology was consulted on a newborn girl with multiple fractures and wavy thin ribs noted on X-rays. In addition to the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone Density Conservation Agents
Share to Dwarfism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Infant, Newborn

Share to Liver Failure, Acute

Share to Neoplasm Proteins

Share to Osteogenesis Imperfecta

Share to Recurrence

Source

Open in PubMed Open full text

Identifiers

PMID: 33542026
DOI: 10.1136/bcr-2020-234993
PMCID: PMC7868262

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure.PMID 33542026Read ↗

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.Semantic proximity Read ↗

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.Semantic proximity Read ↗

Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.Semantic proximity Read ↗

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.Semantic proximity Read ↗

Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.Semantic proximity Read ↗

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.Semantic proximity Read ↗

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.Semantic proximity Read ↗

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.Semantic proximity Read ↗

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfectaSemantic proximity Read ↗

A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.Semantic proximity Read ↗

Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2.Semantic proximity Read ↗

Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.