DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
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 Selicorni, Gabriella Maria Squeo, Giuseppe Merla, Bruno Dallapiccola, Zeynep Tümer, M. Cristina Digilio, Manuela Priolo, Marco Tartaglia
Topics & Concepts
Kabuki syndromeBiologyGeneticsExome sequencingExomeDNA methylationEpigeneticsGermlineGenePhenotypeGene expressionGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities