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

• Prif Awduron: Wei Guo (Awdur), Yanguo Zhao (Awdur), Shuwei Li (Awdur), Jingqun Wang (Awdur), Xiang Liu (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2020-10-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: 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...