Article
Sleep disturbance is a common feature of Kabuki syndrome.
American journal of medical genetics. Part A - 1 Oct 2022
Rapp Tyler, Kalinousky Allison J, Johnson Jennifer, Bjornsson Hans, Harris Jacqueline
Abstract excerpt
Kabuki syndrome (KS) is a rare epigenetic disorder caused by heterozygous loss of function variants in either KMT2D (90%) or KDM6A (10%), both involved in regulation of histone methylation. While sleep disturbance in other Mendelian disorders of the epigenetic machinery has been reported, no study has been conducted on sleep in KS. This study assessed sleep in 59 participants with KS using a validated sleep...
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