A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Stritt, Simon; Nurden, Paquita; Turro, Ernest; Greene, Daniel; B.G. Jansen, Sjoert; K. Westbury, Sarah; Petersen, R.; J. Astle, William; Marlin, Sandrine; K. Bariana, Tadbir; Kostadima, Myrto; Lentaigne, Claire; Maiwald, Stephanie; Papadia, Sofia; M. Kelly, Anne; Stephens, Jonathan; J. Penkett, Christopher; Ashford, Sofie; Tuna, Salih; Austin, Steve; Bakchoul, Tamam; Collins, Peter; Favier, Rémi; P. Lambert, Michele; Mathias, Mary; M. Millar, Carolyn; Mapeta, Rutendo; J. Perry, David; Schulman, Sol; Simeoni, Ilenia; Thys, Chantal; Gomez, Keith; N. Erber, Wendy; Stirrups, Kathleen; Rendon, Augusto; R. Bradley, John; Van Geet, Chris; Lucy Raymond, F.; Laffan, Michael; T. Nurden, Alan; Nieswandt, Bernhard; Richardson, Sylvia; Freson, Kathleen; H. Ouwehand, Willem; Mumford, Andrew

doi:10.1182/blood-2015-10-675629

Public

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Published in Blood • Feb 24, 2016

Authors:

Simon Stritt

Paquita Nurden

Ernest Turro

Abstract

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 rep...

Subject

Hearing loss

Medicine

Audiology

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