Gene Mutation Produces Wildly Different Diseases in Different Patients

Researchers have discovered that disruptions in a single gene—retinoic acid receptor beta—trigger vastly different clinical outcomes across patients, from mild to severe presentations. The finding could reshape how doctors diagnose genetic disorders and predict patient outcomes, potentially enabling personalized treatment strategies where one genetic diagnosis no longer means one predetermined disease course.

Originaltitel: Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta