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

• প্রধান লেখক: Wei Guo (লেখক), Yanguo Zhao (লেখক), Shuwei Li (লেখক), Jingqun Wang (লেখক), Xiang Liu (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2020-10-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...