Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 32303357.
- Also identified by DOI 10.1016/j.jpeds.2020.01.064.
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Abstract
We identified biallelic pathogenic mutations in the Lipolysis-stimulated lipoprotein receptor (LSR) gene in a patient with infantile intrahepatic cholestasis. We established that mutations in the LSR gene, which encodes a protein which is critical for the formation of tricellular tight junctions in the liver, are a novel cause of pediatric cholestasis.
Medical subject headings
- Cholestasis, Intrahepatic
- Frameshift Mutation
- Receptors, Lipoprotein