Epstein syndrome
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Genetics
- autosomal dominant
- associated with defects in MYH9
Clinical manifestations
Laboratory
- complete blood count: thrombocytopenia
- peripheral blood smear: giant platelets
- urinalysis: may show hematuria, proteinuria
More general terms
- genetic disease of the blood/bone marrow
- genetic syndrome (multisystem disorder)
- platelet disorder; thromboasthenia