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

• Päätekijät: Wei Guo (Tekijä), Yanguo Zhao (Tekijä), Shuwei Li (Tekijä), Jingqun Wang (Tekijä), Xiang Liu (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2020-10-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...