Article

A Novel Homozygous USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature

2021-08-12

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Hereditary cholestasis is a heterogeneous group of liver diseases that mostly show autosomal recessive inheritance. The phenotype of cholestasis is highly variable. Molecular genetic testing offers a useful approach to differentiate different types of cholestasis because some symptoms and findings overlap. Biallelic variants in <italic>USP53</italic> have recent...

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Literature Corpus work: 206181a6-52a2-502d-8cd5-e96fab38d83c
DOI: 10.21203/rs.3.rs-762230/v1

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