Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
Joint Authors
Furuya, Katryn N.
Timothy, Leander D.
Lehrke, Heidi D.
Chandan, Vishal S.
Kolbe, Amy B.
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-04-24
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Timothy, Leander D.& Lehrke, Heidi D.& Chandan, Vishal S.& Kolbe, Amy B.& Furuya, Katryn N.. 2019. Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation. Case Reports in Pediatrics،Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1143772
Modern Language Association (MLA)
Timothy, Leander D.…[et al.]. Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation. Case Reports in Pediatrics No. 2019 (2019), pp.1-4.
https://search.emarefa.net/detail/BIM-1143772
American Medical Association (AMA)
Timothy, Leander D.& Lehrke, Heidi D.& Chandan, Vishal S.& Kolbe, Amy B.& Furuya, Katryn N.. Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation. Case Reports in Pediatrics. 2019. Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1143772
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143772