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

• मुख्य लेखकों: Wei Guo (लेखक), Yanguo Zhao (लेखक), Shuwei Li (लेखक), Jingqun Wang (लेखक), Xiang Liu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...