DNA Methylation Profiling in Kabuki Syndrome: Reclassification of Germline KMT2D VUS and Sensitivity in Validating Postzygotic Mosaicism

Medicine, Pediatrics, Neurology, Life Sciences, Genetics,
Kabuki Syndrome   DNA Methylation   Genetic Mutation   Neurodevelopmental Disorder   Genetics   Mosaicism  

DNA methylation analysis in Kabuki syndrome: reclassification of germline KMT2D variants Background Kabuki syndrome (KS) is a rare multiple congenital anomaly/neurodevelopmental disorder caused by heterozygous inactivating variants or structural rearrangements in the KMT2D gene. Although KS is recognizable due to its distinctive facial features, di...