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Case Report: Recurrent intrahepatic cholestasis: two rare cases with their novel variants of ATB8B1 and atypical clinical findings

Recurrent intrahepatic cholestasis type 1 (RIC1), historically also known as BRIC 1 (benign recurrent intrahepatic cholestasis typr 1),is an autosomal recessive disorder presenting with intermittent episodes of cholestatic jaundice and caused by pathogenic variants of adenosine triphosphatase phosph...

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Hoofdauteurs: Jiaxun Li, Qi Wei, Sicong Liu, Luyu Lv, Huarong Ding, Liping Guo, Diefei Hu, Qiuyue Ning
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2026-07-01
Reeks:Frontiers in Medicine
Onderwerpen:
ATP8B1 gene
autosomal recessive
case report
compound heterozygous variants
recurrent intrahepatic cholestasis
Online toegang:https://www.frontiersin.org/articles/10.3389/fmed.2026.1886444/full
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