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Article

Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.

Journal of hepatology - 1 Dec 2016

Grammatikopoulos Tassos, Sambrotta Melissa, Strautnieks Sandra, Foskett Pierre, Knisely A S, Wagner Bart, Deheragoda Maesha, Starling Chris, Mieli-Vergani Giorgina, Smith Joshua, Bull Laura, Thompson Richard J

Abstract excerpt

BACKGROUND & AIMS: Neonatal sclerosing cholangitis (NSC) is a severe neonatal-onset cholangiopathy commonly leading to liver transplantation (LT) for end-stage liver disease in childhood. Liver biopsy findings histopathologically resemble those in biliary atresia (BA); however, in NSC extrahepatic bile ducts are patent, whilst in BA their lumina are obliterated. NSC is commonly seen in consanguineous kindreds,...

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Share to Cholangitis, Sclerosing
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Liver Disease Diagnosis and Treatment

Share to Liver Diseases and Immunity

Share to Microtubule-Associated Proteins

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Share to Pediatric Hepatobiliary Diseases and Treatments

Source

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Identifiers

PMID: 27469900
DOI: 10.1016/j.jhep.2016.07.017
PMCID: PMC5116266

Genes

DCDC2

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.

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