Article
The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology.
Development (Cambridge, England) - 17 Jul 2020
Shpargel Karl B, Mangini Cassidy L, Xie Guojia, Ge Kai, Magnuson Terry
Abstract excerpt
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 of KS2 patients, it is not clear whether differences exist in clinical manifestations relative to KS1. We mutated KMT2D in neural crest cells (NCCs) to study cellular and molecular functions in craniofacial development with respect to...
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