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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 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