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

• Κύριοι συγγραφείς: Wei Guo (Συγγραφέας), Yanguo Zhao (Συγγραφέας), Shuwei Li (Συγγραφέας), Jingqun Wang (Συγγραφέας), Xiang Liu (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2020-10-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...