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Neonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes

29 Apr 2025

Abstract excerpt

INTRODUCTION: Neonatal cholestasis is a group of disorders characterised by conjugated hyperbilirubinemia in the newborns and young infants. Advances in genetic testing have facilitated the identification of specific aetiology. This study examines the genetic and clinical profiles of neonates with cholestasis, focusing on genotype-phenotype correlations and diagnostic outcomes. METHODS: A retrospective review of...

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PMID: 40302296
DOI: 10.1111/jpc.70072

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