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Article

Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.

Journal of pediatric hematology/oncology - 1 Jul 2018

Teranishi Hideto, Koga Yuhki, Nakashima Kentaro, Morihana Eiji, Ishii Kanako, Sakai Yasunari, Taguchi Tomoaki, Oda Yoshinao, Miyake Noriko, Matsumoto Naomichi, Ohga Shouichi

Abstract excerpt

A 3-year-old Japanese girl treated for hypoplastic left heart syndrome and Dandy-Walker syndrome was diagnosed with Kabuki syndrome (KS) with a mutation of KMT2D; c.13285C>T:p.Q4429*. Concurrently, macrohematuria portended the diagnosis of Wilms tumor. Postoperative chemotherapy has achieved complete remission despite a prolonged and reduced regimen due to liver dysfunction and convulsions. Cancer predisposition...

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PMID: 29489735
DOI: 10.1097/MPH.0000000000001111

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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