Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.

doi:10.1111/ahg.12542

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Article

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.

Annals of human genetics - 1 May 2024

Khabou Boudour, Kallabi Fakhri, Abdelaziz Rim Ben, Maaloul Ines, Aloulou Hajer, Chehida Amel Ben, Kammoun Thouraya, Barbu Veronique, Boudawara Tahya Sellami, Fakhfakh Faiza, Khemakhem Bassem, Sahnoun Olfa Siala

Abstract excerpt

Many inherited conditions cause hepatocellular cholestasis in infancy, including progressive familial intrahepatic cholestasis (PFIC), a heterogeneous group of diseases with highly overlapping symptoms. In our study, six unrelated Tunisian infants with PFIC suspicion were the subject of a panel-target sequencing followed by an exhaustive bioinformatic and modeling investigations. Results revealed five...

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Identifiers

PMID: 38108658
DOI: 10.1111/ahg.12542

Genes

ABCB11
ABCC2
ABCG5
ABCG8

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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