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

• Asıl Yazarlar: Wei Guo (Yazar), Yanguo Zhao (Yazar), Shuwei Li (Yazar), Jingqun Wang (Yazar), Xiang Liu (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2020-10-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...