Journal
JOURNAL OF PEDIATRICS
Volume 240, Issue -, Pages 284-+Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2021.09.019
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This study identified 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 impaired functional cell polarity associated with KIF12 may be the underlying cause.
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.
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