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Article

Intrahepatic Cholestasis of Pregnancy: A Single-Centre Whole-Exome Sequencing Study in a Maltese Cohort.

Clinical genetics - 1 Aug 2025

Spiteri Dorianne, Grech Laura, Savona-Ventura Charles, Pace Nikolai Paul

Abstract excerpt

Intrahepatic cholestasis of pregnancy (ICP) has a multifactorial pathophysiology involving genetic, endocrine, and environmental factors. It is associated with maternal distress and adverse foetal outcomes. The monogenic aetiology of ICP remains unexplored in the Maltese population. We apply whole exome sequencing in 20 unrelated index cases to assess the molecular spectrum of variants in genes linked to bile...

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Share to ATP Binding Cassette Transporter, Subfamily B
Share to Cholestasis, Intrahepatic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Exome Sequencing

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Source

Identifiers

PMID: 39956944
DOI: 10.1111/cge.14728

Genes

ABCB4

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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