Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Cornelis A Albers,
Ana Cvejic,
Rémi Favier,
Evelien E Bouwmans,
Marie-Christine Alessi,
Paul Bertone,
Gregory Jordan,
Ross NW Kettleborough,
Graham Kiddle,
Myrto Kostadima,
Randy J Read,
Botond Sipos,
Suthesh Sivapalaratnam,
Peter A Smethurst,
Jonathan Stephens,
Katrin Voss,
Alan Nurden,
Augusto Rendon,
Paquita Nurden,
Willem H Ouwehand
Aug 20, 2020
Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of α-granules; these abnormalities cause mostly moderate but in rare...