Obstetrics, 126-131 | DOI: 10.53260/EGO.235037 Diagnosis of Kabuki syndrome with unreported KMT2D pathogenic variant: contribution of prenatal facial dysmorphology analysis and whole exome sequencing – about a clinical report and review of the literature Jean-Marc Biard, Hélène Englebert, Anne Destrée, Valérie Benoit, Karlien Carbonez, Matthieu Ortegat, Pierre Bernard, Yves Sznajer
