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The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Genes - 21 Nov 2021

Jeyaraj Rebecca, Bounford Kirsten McKay, Ruth Nicola, Lloyd Carla, MacDonald Fiona, Hendriksz Christian J, Baumann Ulrich, Gissen Paul, Kelly Deirdre

Abstract excerpt

Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver diseases of unknown cause has also uncovered novel gene-disease associations and improved our understanding of physiological bile secretion and flow. By helping to define the molecular basis of certain...

Topics

Cholestasis
Genetic Loci
Genetic Predisposition to Disease
Genetic Testing
Humans
Infant
Infant, Newborn
Infant, Newborn, Diseases

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 34828443
DOI: 10.3390/genes12111837
PMCID: PMC8621872

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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