Patients carrying moderate- to high-risk breast cancer variants had poorer breast cancer–free survival, whereas polygenic risk scores did not improve prognostic stratification.
Exagamglogene autotemcel is now indicated for patients aged 2 years and older with sickle cell disease and recurrent vaso-occlusive crises or transfusion-dependent beta thalassemia.
Autopsy-confirmed findings linked diagnostic errors, co-pathology, and genetic variation to distinct pathologic patterns across more than 3,300 donors with Parkinsonian disorders.
Teriparatide followed by zoledronic acid increased bone mineral density but did not reduce fracture risk compared with standard care in adults with osteogenesis imperfecta.
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FOXC1 duplications were the second most common monogenic finding among genetically solved juvenile open-angle glaucoma cases in one registry, supporting the use of copy-number variant analysis in early-onset glaucoma testing.