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Article

Cholestatic Liver Disease in a Child with KIF12 Mutation.

Indian journal of pediatrics - 1 Jul 2024

Samanta Arghya, Sarma Moinak Sen, Srivastava Anshu, Poddar Ujjal

Abstract excerpt

Cholestatic liver diseases in children often have an underlying genetic defect. Genetic testing by next-generation sequencing has become a crucial part of the diagnostic armamentarium in such clinical scenarios. Here, authors report an infant with recurrent cholestasis, pruritus, elevated gamma-glutamyl transpeptidase, patent biliary tract and biliary changes on histology who was detected to have a novel KIF12...

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Identifiers

PMID: 37919484
DOI: 10.1007/s12098-023-04914-0

Genes

KIF12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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