Genetics Clinical Grand Rounds: "MAP3K7 Phenotypes: A Review and Case Presentation"

Program Goal:

1 Review, compare, and contrast the two main phenotypes currently associated with the gene: Cardiospondylocarpofacial syndrome (CSCFS) and Frontometaphyseal dysplasia type 2 (FMD2)

2 Explore the spectrum of variants and genotype-phenotype relationships

3 Discuss emerging insights into pathophysiology