Genetic & Genomic MedicineAmerican Journal of Medical Genetics Part APeer-reviewed
Understanding Barriers to Diagnosis in a Rare, Genetic Disease: Delays and Errors in Diagnosing Schwannomatosis
Vanessa L. Merker, Bronwyn Slobogean, Justin T. Jordan…·Scott Randall Plotkin
This study examines diagnostic delays and errors in schwannomatosis using medical records, finding long delays and frequent misdiagnoses linked to non-specific symptoms and missed genetic testing opportunities.
17 citations