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

Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.

BMC pediatrics - 5 Aug 2020

Kim Kwang Yeon, Kim Tae Hyeong, Seong Moon-Woo, Park Sung Sup, Moon Jin Soo, Ko Jae Sung

Abstract excerpt

BACKGROUND: Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder presenting as isolated direct hyperbilirubinemia.DJS is rarely diagnosed in the neonatal period. The purpose of this study was to clarify the clinical features of neonatal DJS and to analyze the genetic mutation of adenosine triphosphate-binding cassette subfamily C member 2 (ABCC2). METHODS: From 2013 to 2018, 135 infants with neonatal...

Read the complete abstract on PubMed

Topics

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

Share to Bilirubin
Share to Cholestasis
Share to Hyperbilirubinemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Infant, Newborn

Share to Multidrug Resistance-Associated Protein 2

Share to Multidrug Resistance-Associated Proteins

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 32758197
DOI: 10.1186/s12887-020-02260-0
PMCID: PMC7404915

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.PMID 32758197Read ↗

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 ↗

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

Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan.Semantic proximity Read ↗

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

Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.Semantic proximity Read ↗

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

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

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in ChinaSemantic proximity Read ↗

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

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.Semantic proximity Read ↗

Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese family.Semantic proximity Read ↗

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