BIARD, Jean-Marc; ENGLEBERT, Hélène; DESTRÉE, Anne; BENOIT, Valérie; CARBONEZ, Karlien; ORTEGAT, Matthieu; BERNARD, Pierre; SZNAJER, Yves. 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. European Gynecology & Obstetrics, [S. l.], v. 5, n. 3, 2024. DOI: 10.53260/EGO.235037. Disponível em: https://egojournal.eu/index.php/ego/article/view/119. Acesso em: 10 sep. 2026.