Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1.

doi:10.1371/journal.pgen.1011310

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Article

Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1.

PLoS genetics - 1 Jun 2024

Gao Christine W, Lin WanYing, Riddle Ryan C, Chopra Sheetal, Kim Jiyoung, Boukas Leandros, Hansen Kasper D, Björnsson Hans T, Fahrner Jill A

Abstract excerpt

Growth deficiency 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 deficiency in a mouse model of KS1 and further established that a Kmt2d-/- chondrocyte model of KS1 exhibits precocious differentiation. Here we characterized...

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PMID: 38857303
DOI: 10.1371/journal.pgen.1011310
PMCID: PMC11192384

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