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Article

Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice

26 Sept 2019

Abstract excerpt

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,...

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PMID: 31557133
DOI: 10.1172/jci.insight.129380

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