Timothy, Leander D.
https://orcid.org/0000-0001-7238-4072
Mayo Clinic
Department of Pediatric and Adolescent Medicine, and Divisions of
Citations 2
Case 3: Bradycardia in a Vigorous Newborn
Timothy, Leander D. , Stetson, Raymond C. , Qureshi, M. Yasir , Wilkins, Stephanie N., Asay, Garth F., Qureshi, Muhammad Yasir, Qureshi, Muhammad Y
NeoReviews | May 1, 2019 | Volume: 20 | Issue: 5 | Pages: e298-e301
Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
Timothy, Leander D. , Lehrke, Heidi D., Chandan, Vishal S. , Kolbe, Amy B. , Furuya, Katryn N.
Case Reports in Pediatrics | April 24, 2019 | Volume: 2019 | Issue: No issue available | Pages: 1-4
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.