Article
A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia.
Acta haematologica - 1 Jan 2000
Tamura Shinobu, Kosako Hideki, Furuya Yoshiaki, Yamashita Yusuke, Mushino Toshiki, Mishima Hiroyuki, Kinoshita Akira, Nishikawa Akinori, Yoshiura Ko-Ichiro, Sonoki Takashi
Abstract excerpt
Kabuki syndrome (KS) is a rare congenital disorder commonly complicated by humoral immunodeficiency. Patients with KS present with mutation in the histone-lysine N-methyltransferase 2D (KMT2D) gene. Although various KMT2D mutations are often identified in lymphoma and leukemia, those encountered in aplastic anemia (AA) are limited. Herein, we present the case of a 45-year-old Japanese man who developed severe...
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