KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 34555379.
- Also identified by DOI 10.1016/j.jpeds.2021.09.019.
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Abstract
KIF12 has been identified as a cholestasis-associated candidate gene. We describe 6 cases from 4 unrelated families with diverse cholestatic phenotypes carrying 2 different homozygous KIF12 truncating variants. Immunofluorescence investigations of paraffin-embedded liver sections suggest that KIF12-associated impaired functional cell polarity may be the underlying cause.
Medical subject headings
- Cholestasis
- Kinesins
- Liver Diseases