Interim analysis compared ataluren in a real-world setting from the STRIDE registry with a matched cohort; the final data from the STRIDE registry are expected in 2025.
The profound consequences of the results guide decisions about testing. Who should be tested? And, just as important, who should not?
In this podcast, Heidi Moawad, MD interviews Cesar Ochoa-Lubinoff, MD, MPH, FAAP, about recent encouraging clinical trial results in patients with Angelman syndrome.
Unusual Skin Elasticity, Joint Hypermobility, Violaceous Plaques in 3 Different Patients: What’s Your Diagnosis?
Digital extension; joint hypermobility; skin elasticity with keloid scars; pectus and scoliosis from skeletal flexibility and deformation; these disparate symptoms and findings point to what diagnosis?