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Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.

Gastroenterologia y hepatologia - 1 Oct 2022

Mínguez Rodríguez Beatriz, Molera Busoms Cristina, Martorell Sampol Loreto, García Romero Ruth, Colomé Rivero Gemma, Martín de Carpi Javier

Abstract excerpt

INTRODUCTION: Heterozygous defects in genes implicated in Progressive Familial Intrahepatic Cholestasis have been described in milder forms of cholestatic diseases. Our aim is to describe clinical, laboratory and imaging characteristics as well as treatment and outcome of a cohort of pediatric patients with heterozygous mutations in ATP8B1, ABCB11 or ABCB4. PATIENTS AND METHODS: We present a retrospective...

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Identifiers

PMID: 34942279
DOI: 10.1016/j.gastrohep.2021.12.005

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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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