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Article

[Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Aug 2018

Li J Q, Lu Y, Qiu Y L, Wang J S

Abstract excerpt

Objective: To summarize and review the clinical and genetic features of neonatal sclerosing cholangitis (NSC) caused by DCDC2 variations. Methods: Whole exome sequencing was performed to identify DCDC2 variants in two Chinese siblings with NSC who were diagnosed in Children's Hospital of Fudan University in May 2017. Clinical, laboratory and genetic data of the two cases were summarized. Key words of "DCDC2"...

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Source

Identifiers

PMID: 30078246
DOI: 10.3760/cma.j.issn.0578-1310.2018.08.013

Genes

DCDC2

Variants

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.

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