Glanzmann thrombasthenia (Glanzmann–Naegeli syndrome, platelet αIIbβ3 deficiency, platelet fibrinogen receptor deficiency).
OMIM# of the disease
273800.
Analyzed genes or DNA/chromosome segments
ITGA2B (αIIb) and ITGB3 (β3) – chromosome 17q21.32.
OMIM# of the gene(s)
607759 (ITGA2B) and 173470 (ITGB3).
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in diagnostic and prenatal settings, and for risk assessment in relatives.
- Mathieu Fiore
- Alan T Nurden
- Uri Seligsohn
