Article

Precocious Chondrocyte Differentiation Disrupts Skeletal Growth in Kabuki Syndrome Mice

2019-04-05

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 +/ β Geo ) exhibits features of the human disorder and has provided insight into other phenotypes; howe...

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Literature Corpus work: 2f522755-1942-5edc-94e8-74795b7e8d5c
DOI: 10.1101/599878

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