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

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...

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Detalles Bibliográficos
Autores principales: Timothy, Leander D., Lehrke, Heidi D., Chandan, Vishal S., Kolbe, Amy B., Furuya, Katryn N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507262/
https://www.ncbi.nlm.nih.gov/pubmed/31179148
http://dx.doi.org/10.1155/2019/7983824

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507262/
https://www.ncbi.nlm.nih.gov/pubmed/31179148
http://dx.doi.org/10.1155/2019/7983824

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