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RASopathy Biorepository

The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function …

  • 223 views
  • 08 Aug, 2021
  • 1 location
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Clinical Genetic and Epidemiologic Study of Children and Adults With RASopathies

Background RASopathies are a group of conditions caused by a genetic change. People with a RASopathy may have developmental issues, cognitive disability, poor growth, and birth defects. They may also have an increased risk for developing cancer. Researchers want to learn more. Objective: To learn more about RASopathies, how genes …

Accepts healthy volunteers
  • 0 views
  • 01 Dec, 2021
  • 1 location