Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity. - López-Font, Francisco J.; De Arrigunaga, Sofia; Santos da Cruz, Natasha F.; Fan, Jason C.; Shah, Serena M.; Hudson, Julia L.; Borja, Nicholas A.; Barbouth, Deborah S.; Berrocal, Audina M. (Ophthalmic Genetics, 2025)