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

• المؤلفون الرئيسيون: Wei Guo (مؤلف), Yanguo Zhao (مؤلف), Shuwei Li (مؤلف), Jingqun Wang (مؤلف), Xiang Liu (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2020-10-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...