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Kabuki syndrome (KS) is a rare disorder primarily associated with mutations in the  KMT2D  and  KDM6A  genes. Several tumors have been reported with KS; however, there have been no reports of hepatocellular carcinoma (HCC) or hepatic adenomatosis. We present an adolescent girl with KS and a novel  KMT2D  mutation who developed diffuse adenomatosis, HCC, and subsequently underwent liver transplantation.

case reports in pediatrics

Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel <i>KMT2D</i> Gene Mutation

Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation