DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism

European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-024-01597-9DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism

Source: European Journal of Human Genetics - March 25, 2024 Category: Genetics & Stem Cells Authors: Marcello Niceta Andrea Ciolfi Marco Ferilli Lucia Pedace Camilla Cappelletti Claudia Nardini Mathis Hildonen Luigi Chiriatti Evelina Miele Maria Lisa Dentici Maria Gnazzo Claudia Cesario Elisa Pisaneschi Anwar Baban Antonio Novelli Silvia Maitz Angelo Sel Source Type: research