JOHANSON-BLIZZARD SYNDROME

Course overview

Johanson-Blizzard syndrome (JBS) is an extremely rare autosomal recessive disorder that is caused by a mutation in the UBR1 gene, which encodes one of several ubiquitin ligase enzymes that regulate proteins. This continuing education module is designed to give the reader/learner an increased understanding of Johanson-Blizzard syndrome, its clinical presentation, symptoms, and treatment for patients with this diagnosis. Readers may explore any or all of the topics. One contact hour of continuing education credit is available for those who successfully complete the post-test and evaluation form.