Neonatal sclerosing cholangitis with novel mutations in dcdc2 (doublecortin domain-containing protein 2) in chinese children

HIGHLIGHTS

• who: Xia Wei and collaborators from the Patient The inclusion criteria included patients had the disorder of liver function, cholestasis with elevated GGT during infancy, in whom cholangiopathy was demonstrated on histopathology or imagingMeanwhile, WES confirmed mutations in only DCDC2. Moreover, the cholangiography showed no atresia of the bile duct. Then the patient can be definitively diagnosed with a DCDC2-related NSC. Exclusion criteria covered biliary atresia, ichthyosis-like skin lesions, Alagille syndrome or immune dysregulation. The information of four Chinese pediatric patients with DCDC2-related NSC in the Children`s Hospital of Fudan University were reviewed . . .
  

   

  

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