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

Clinical characteristics and ABCC2 genotype in Dubin-Johnson syndrome: A case report and review of the literature

22 Jan 2021

Abstract excerpt

BACKGROUND: variants will that contribute to DJS identification. CASE SUMMARY: genotype exhibiting a pathogenic variant, namely c.2443C>T (p.Arg815*), which has not been reported previously in the domestic or foreign literature. CONCLUSION: mutations play an important role in the diagnosis of DJS, especially in patients with atypical presentations. Currently, NGS is used in the routine analysis of DJS cases and...

Read the complete abstract on PubMed

Topics

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

Share to Hemoglobinopathies and Related Disorders
Share to Neonatal Health and Biochemistry
Share to Pneumocystis jirovecii pneumonia detection and treatment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33585635
DOI: 10.12998/wjcc.v9.i4.878

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical characteristics and ABCC2 genotype in Dubin-Johnson syndrome: A case report and review of the literaturePMID 33585635Read ↗

Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome.Semantic proximity Read ↗

ABCC2 mutation spectrum and phenotypic diversity in pediatric Dubin-Johnson syndrome: a chinese cohort analysis.Semantic proximity Read ↗

[The phenotypes and genotypes of four patients with Dubin-Johnson syndrome].Semantic proximity Read ↗

In silico screening and analysis of single-nucleotide polymorphic variants of the ABCC2 gene affecting Dubin-Johnson syndrome.Semantic proximity Read ↗

[Clinical and molecular genetic analysis of nine patients with neonatal Dubin-Johnson syndrome].Semantic proximity Read ↗

[Genetic analysis of a case with Dubin-Johnson syndrome due to two novel variants of ABCC2 gene].Semantic proximity Read ↗

Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.Semantic proximity Read ↗

Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndromeSemantic proximity Read ↗

Neonatal Dubin-Johnson syndrome: biochemical parameters, characteristics, and genetic variants study.Semantic proximity Read ↗

Genetic contribution of ABCC2 to Dubin‐Johnson syndrome and inherited cholestatic disordersSemantic proximity Read ↗

Genotype-Phenotype Association in ABCC2 Exon 18 Missense Mutation Leading to Dubin-Johnson Syndrome: A Case Report.Semantic proximity Read ↗

A novel homozygous frameshift variant in the ABCC2-gene in Dubin-Johnson syndrome may predispose to chronic liver disease.Semantic proximity Read ↗

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