Article

Clinical Diversity and Outcomes of Progressive Familial Intrahepatic Cholestasis Diagnosed by Whole Genome Sequencing in Pakistani Children

2024-02-28

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) is a rare group of genetic disorders that typically present in infants and children, often progressing to end-stage liver disease. Using whole genome sequencing (WGS) for diagnosis, we aimed to assess phenotypic features and outcomes, in Pakistani children with different types of PFIC. The study included 116 pediatric participants with five PFIC types: PFIC1, AT...

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Literature Corpus work: 57fec68f-8d37-54c8-b71e-fb84bdc8195c
DOI: 10.1101/2024.02.26.24303272

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