Biallelic Novel < b > < i > USP53 < /i > < /b > Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature

Conclusion: We propose a model for the tertiary structure of USP53 for the first time, and together with all these data, we support the association of biallelic variants of theUSP53 gene with cholestasis phenotype. We also present a comparison of previously reported patients withUSP53-associated cholestasis phenotype to contribute to the literature.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research