Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report

• 主要な著者: Wei Guo (著者), Yanguo Zhao (著者), Shuwei Li (著者), Jingqun Wang (著者), Xiang Liu (著者)
• フォーマット: 図書
• 出版事項: BMC, 2020-10-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderate intellectual disability. Pathogenic variants in two epigenetic modifi...