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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Hindawi Limited,
2019-01-01T00:00:00Z.
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|---|---|---|---|
| 001 | doaj_b3fbea5623b543eab6a744e30c2a0c29 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Leander D. Timothy |e author |
| 700 | 1 | 0 | |a Heidi D. Lehrke |e author |
| 700 | 1 | 0 | |a Vishal S. Chandan |e author |
| 700 | 1 | 0 | |a Amy B. Kolbe |e author |
| 700 | 1 | 0 | |a Katryn N. Furuya |e author |
| 245 | 0 | 0 | |a Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation |
| 260 | |b Hindawi Limited, |c 2019-01-01T00:00:00Z. | ||
| 500 | |a 2090-6803 | ||
| 500 | |a 2090-6811 | ||
| 500 | |a 10.1155/2019/7983824 | ||
| 520 | |a 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. | ||
| 546 | |a EN | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Case Reports in Pediatrics, Vol 2019 (2019) | |
| 787 | 0 | |n http://dx.doi.org/10.1155/2019/7983824 | |
| 787 | 0 | |n https://doaj.org/toc/2090-6803 | |
| 787 | 0 | |n https://doaj.org/toc/2090-6811 | |
| 856 | 4 | 1 | |u https://doaj.org/article/b3fbea5623b543eab6a744e30c2a0c29 |z Connect to this object online. |