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Browsing by Subject "neurodevelopment disorder"

Browsing by Subject "neurodevelopment disorder"

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    Neurobehavioral phenotype of Kabuki syndrome : Anxiety is a common feature 
    Kalinousky, Allison; Rapp, Tyler; Hijazi, Hadia; Johnson, Jennifer; Björnsson, Hans Tómas; Harris, Jacqueline R. (2022-10-06)
    Kabuki syndrome (KS) is a Mendelian Disorder of the Epigenetic Machinery (MDEM) caused by loss of function variants in either of two genes involved in the regulation of histone methylation, KMT2D (34–76%) or KDM6A (9–13%). Previously, representative ...