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

• Main Authors: Wei Guo (Author), Yanguo Zhao (Author), Shuwei Li (Author), Jingqun Wang (Author), Xiang Liu (Author)
• פורמט: ספר
• יצא לאור: BMC, 2020-10-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: 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...