Genetics Clinical Grand Rounds: A Novel Syndrome Caused by Recessive Variants in Cysteine-rich Protein with EGF-like Domains 1 (CRELD1)

Program Objective(s):

1 The learner will review prior associations of CRELD1 with disease and will be introduced to CRELD1 as the cause of a novel mendelian syndrome

2 The learner will understand clinical manifestations of this novel disorder

3 The learner will appreciate a functional approach to support variants in CRELD1 as causative