Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience
Due to the limitations of the Sanger method, the molecular defect could only be defined in approximately 30% of cases. In the remaining 70% of patients, the genetic cause remained unidentified, highlighting the need for further evaluation using an extended NGS panel targeting genes associated with inherited thrombocytopenias.
Authors
- E. Cosi
- Daniela Regazzo (ORCID: https://orcid.org/0000-0002-1942-7202)
- Alessandro Galbiati
- Anna Cerbo
- Paolo Simioni
- Silvia Ferrari
Institutions
- University of Padua (IT)
Publication Details
- Journal
- International Journal of Laboratory Hematology
- Published
- 2026-02-23
- DOI
- https://doi.org/10.1111/ijlh.70081
- Primary Topic
- Platelet Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00