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

• Main Authors: Wei Guo (Author), Yanguo Zhao (Author), Shuwei Li (Author), Jingqun Wang (Author), Xiang Liu (Author)
• Format: Bog
• Udgivet: BMC, 2020-10-01T00:00:00Z.
• Fag: article
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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...