Article
Growth retardation in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1
2023-10-16
Abstract excerpt
<h4>ABSTRACT</h4> Growth retardation is a characteristic feature of both Kabuki syndrome 1 (KS1) and Kabuki syndrome 2 (KS2), Mendelian disorders of the epigenetic machinery with similar phenotypes but distinct genetic etiologies. We previously described skeletal growth retardation in a mouse model of KS1 and further established that a Kmt2d −/− chondrocyte model of KS1 exhibits precocious differentiation. Here...
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Identifiers and source
- Literature Corpus work
- 86392d93-bb66-5fed-96d6-2a56c0ee102d
- DOI
- 10.1101/2023.10.15.562327
