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

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...

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Príomhchruthaitheoirí: Wei Guo (Údar), Yanguo Zhao (Údar), Shuwei Li (Údar), Jingqun Wang (Údar), Xiang Liu (Údar)
Formáid: LEABHAR
Foilsithe / Cruthaithe: BMC, 2020-10-01T00:00:00Z.
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