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New paper on a gain-of-function variant in DIAPH1 that causes dominant macrothrombocytopenia and hearing loss

last modified Mar 02, 2016 08:59 PM
A gain-of-function variant in DIAPH1 is associated with macrothrombocytopenia and hearing loss and extends the spectrum of DIAPH1 related disease.

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.