1.
Biard J-M, Englebert H, Destrée A, Benoit V, Carbonez K, Ortegat M, et al. 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. EGO [Internet]. 2024 Jan. 23 [cited 2026 Sep. 10];5(3). Available from: https://egojournal.eu/index.php/ego/article/view/119