A gain-of-function variant in DIAPH1 is associated with macrothrombocytopenia and hearing loss and extends the spectrum of DIAPH1 related disease.
Our observations of altered megakaryopoiesis and platelet cytoskeletal regulation highlight a critical role for DIAPH1 in platelet formation.
Stritt et al. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Blood 2016.