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

• Main Authors: Leander D. Timothy (Author), Heidi D. Lehrke (Author), Vishal S. Chandan (Author), Amy B. Kolbe (Author), Katryn N. Furuya (Author)
• פורמט: ספר
• יצא לאור: Hindawi Limited, 2019-01-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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...