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

• Váldodahkkit: Wei Guo (Dahkki), Yanguo Zhao (Dahkki), Shuwei Li (Dahkki), Jingqun Wang (Dahkki), Xiang Liu (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2020-10-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: 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...