Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome.
Dmitrii M PolokhovDaria FedorovaAnastasiya IgnatovaEvgeniya PonomarenkoElena RashevskayaAlexey MartyanovNadezhda PodoplelovaMaxim AleksenkoIrina MersiyanovaElena SereginaAleksandr PoletaevEkaterina TruchinaElena RaykinaSvetlana PlyasunovaGalina NovichkovaPavel ZharkovMikhail PanteleevPublished in: Orphanet journal of rare diseases (2023)
The revealed disorders of phenotype, cytoskeleton and intracellular signaling explain the nature of SLFN14 platelet dysfunction and the patient's severe hemorrhagic syndrome.