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  • Title: Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
    Author: Luperchio TR, Applegate CD, Bodamer O, Bjornsson HT.
    Journal: Mol Genet Genomic Med; 2020 Feb; 8(2):e1072. PubMed ID: 31814321.
    Abstract:
    We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.
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