Article
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood - 9 Jun 2016
Stritt Simon, Nurden Paquita, Turro Ernest, Greene Daniel, Jansen Sjoert B, Westbury Sarah K, Petersen Romina, Astle William J, Marlin Sandrine, Bariana Tadbir K, Kostadima Myrto, Lentaigne Claire, Maiwald Stephanie, Papadia Sofia, Kelly Anne M, Stephens Jonathan C, Penkett Christopher J, Ashford Sofie, Tuna Salih, Austin Steve, Bakchoul Tamam, Collins Peter, Favier Rémi, Lambert Michele P, Mathias Mary, Millar Carolyn M, Mapeta Rutendo, Perry David J, Schulman Sol, Simeoni Ilenia, Thys Chantal, Gomez Keith, Erber Wendy N, Stirrups Kathleen, Rendon Augusto, Bradley John R, van Geet Chris, Raymond F Lucy, Laffan Michael A, Nurden Alan T, Nieswandt Bernhard, Richardson Sylvia, Freson Kathleen, Ouwehand Willem H, Mumford Andrew D
Abstract excerpt
Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. In most MTP, this phenotype arises because of altered regulation of platelet formation from megakaryocytes (MKs). We report the identification of DIAPH1, which encodes the Rho-effector diaphanous-related formin 1 (DIAPH1), as a...
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