Clinical findings from the landmark MEF2C-related disorders natural history study.

Jessica A Cooley Coleman Sara M SarasuaHannah Warren MooreLuigi Boccuto Christopher W Cowan Steven A Skinner Jane M DeLuca

Published 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.

Keyphrases

ejection fraction
newly diagnosed
prognostic factors
electronic health record
machine learning
cross sectional
deep learning