TJP2 hepatobiliary disorders: Novel variants and clinical diversity
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DOI: 10.1002/humu.23947
Abstract: To assess the spectrum of pediatric clinical phenotypes in TJP2 disease, we reviewed records of our seven patients in whom intrahepatic cholestasis was associated with biallelic TJP2 variants (13; 12 novel) and correlated clinical manifestations… read more here.
Keywords: disorders novel; tjp2 hepatobiliary; disease; tjp2 ... See more keywords