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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Autors principals: Wei Guo (Autor), Yanguo Zhao (Autor), Shuwei Li (Autor), Jingqun Wang (Autor), Xiang Liu (Autor)
Format: Llibre
Publicat: BMC, 2020-10-01T00:00:00Z.
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