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Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.

Robert HegartyOlivia GurraJenneh TarawallySammi AllouniObydur RahmanSandra StrautnieksEirini KyranaNedim HadzicRichard J ThompsonTassos Grammatikopoulos
Published in: Journal of pediatric gastroenterology and nutrition (2023)
Rare variants in ABCB4 were found amongst infants and children with cholestatic liver disease. The presenting problems were variable and abnormalities tended to normalize over time. Those with severe mutations could develop liver disease later in life when exposed to further insult and should be counseled appropriately.
Keyphrases
  • liver injury
  • young adults
  • drug induced
  • liver fibrosis
  • mental health
  • early onset
  • copy number
  • genome wide