Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

We present the first patient described with haploinsufficency ofKMT2D leading to Kabuki syndrome. Deletion ofKMT2D has been thought to be lethal, but here we describe a patient withKMT2D deletion and classical Kabuki syndrome phenotype.

Source: Molecular Genetics & Genomic Medicine - December 7, 2019 Category: Genetics & Stem Cells Authors: Teresa Romeo Luperchio, Carolyn D. Applegate, Olaf Bodamer, Hans Tomas Bjornsson Tags: LETTER TO THE EDITOR Source Type: research