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Article

[Infantile cholestasis caused by CFTR mutation: case report and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2016

Li L, Wang N L, Gong J Y, Wang J S

Abstract excerpt

Objective: To study the clinical presentation, biochemical features and genetic analysis of an infant with cholestasis related to the CFTR mutations. Method: The clinical presentation, laboratory investigations and management of a case with infantile cholestasis caused by CFTR mutations were summarized and the relevant literature was reviewed. Result: (1) The patient was a 5 months old boy with cholestasis which...

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Source

Identifiers

PMID: 27806795
DOI: 10.3760/cma.j.issn.0578-1310.2016.11.013

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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