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

• Egile Nagusiak: Wei Guo (Egilea), Yanguo Zhao (Egilea), Shuwei Li (Egilea), Jingqun Wang (Egilea), Xiang Liu (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2020-10-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...