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

• Autori principali: Wei Guo (Autore), Yanguo Zhao (Autore), Shuwei Li (Autore), Jingqun Wang (Autore), Xiang Liu (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2020-10-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...