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.
- exome sequencing
- infantile intrahepatic cholestasis
- tricelluar tight junction
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health