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1-2 of 2
Keywords: Kabuki syndrome
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Journal Articles
Journal:
Development
Development (2020) 147 (21): dev187997.
Published: 17 July 2020
...Karl B. Shpargel; Cassidy L. Mangini; Guojia Xie; Kai Ge; Terry Magnuson; Sally Dunwoodie; John Wallingford ABSTRACT Kabuki syndrome (KS) is a congenital craniofacial disorder resulting from mutations in the KMT2D histone methylase (KS1) or the UTX histone demethylase (KS2). With small cohorts...
Includes: Supplementary data
Journal Articles
Journal:
Development
Development (2016) 143 (5): 810–821.
Published: 1 March 2016
...Siang-Yun Ang; Alec Uebersohn; C. Ian Spencer; Yu Huang; Ji-Eun Lee; Kai Ge; Benoit G. Bruneau KMT2D , which encodes a histone H3K4 methyltransferase, has been implicated in human congenital heart disease in the context of Kabuki syndrome. However, its role in heart development is not understood...
Includes: Supplementary data
