Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice

Volume: 4, Issue: 20
Published: Oct 17, 2019
Abstract
Kabuki syndrome 1 (KS1) is a Mendelian disorder of the epigenetic machinery caused by mutations in the gene encoding KMT2D, which methylates lysine 4 on histone H3 (H3K4). KS1 is characterized by intellectual disability, postnatal growth retardation, and distinct craniofacial dysmorphisms. A mouse model (Kmt2d+/βGeo) exhibits features of the human disorder and has provided insight into other phenotypes; however, the mechanistic basis of skeletal...
Paper Details
Title
Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice
Published Date
Oct 17, 2019
Volume
4
Issue
20
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