First Report of MPL c.23T>G (p.M8R) Variant in Congenital Amegakaryocytic Thrombocytopenia: A Case Report
EJHaem. 2025 Aug 28;6(5):e70136. doi: 10.1002/jha2.70136. eCollection 2025 Oct. ABSTRACT Congenital amegakaryocytic thrombocytopenia is a rare inherited bone marrow failure syndrome primarily caused by MPL …