We report a novel homozygous missense variant in gene in a Yemeni child born to consanguineous parents, with a significant family history of liver disease-related deaths, resulting in a progressive familial intrahepatic cholestasis (PFIC) type 3 phenotype requiring liver transplantation for intractable pruritus.
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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9077154 | PMC |
| http://dx.doi.org/10.1016/j.jceh.2021.04.010 | DOI Listing |
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