Published in
American Society of Hematology, Blood, 23(127), p. 2903-2914, 2016
DOI: 10.1182/blood-2015-10-675629
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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
Journal article published in 2016 by
Chris van Geet,
Simon Stritt,
Paquita Nurden,
Sarah K. Westbury,
P. Nurden,
Sjoert B. Jansen,
Daniel Greene,
William J. Astle,
Tadbir K. Bariana,
Ernest Turro 
,
Romina Petersen,
Jansen Sb,
Westbury Sk,
Sandrine Marlin,
Anne M. Kelly
and other authors.
,
Romina Petersen,
Jansen Sb,
Westbury Sk,
Sandrine Marlin,
Anne M. Kelly
and other authors.
This paper is made freely available by the publisher.
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Abstract
Key PointsA gain-of-function variant in DIAPH1 causes macrothrombocytopenia and hearing loss and extends the spectrum of DIAPH1-related disease. Our findings of altered megakaryopoiesis and platelet cytoskeletal regulation highlight a critical role for DIAPH1 in platelet formation.