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Results KAT6A mutations cause a decrease in histone H3 lysine 23 (H3K23) acetylation in human cells and mice To determine the effects of mutation of the KAT6A gene on histone acetylation, we generated human HEK293T cells carrying six different KAT6A variants observed in individuals with ARTHS using CRISPR/Cas9 and homology-directed repair (Tables S1, S2, and S3)

Although no significant differences were found among the groups in total hip and femoral neck aBMD or trabecular bone score (TBS), changes in lumbar spine aBMD approached statistical significance

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doi:10.1016/j.maturitas.2020.08.008