Clinical findings from the landmark MEF2C-related disorders natural history study.
Jessica A Cooley ColemanSara M SarasuaHannah Warren MooreLuigi BoccutoChristopher W CowanSteven A SkinnerJane M DeLucaPublished in: Molecular genetics & genomic medicine (2022)
This is the largest natural history study to date and establishes a comprehensive review of developmental and clinical features for MEF2C-related disorders. This data can help providers diagnose patients and form the basis for longitudinal or genotype-phenotype studies.