Gray platelet syndrome
Definition:
References:
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[1]. Alan T Nurden, et al. Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?. Am J Hematol. 2016 Jul;91(7):714-8. [Content Brief]
[2]. Cornelis A Albers, et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet. 2011 Jul 17;43(8):735-7. [Content Brief]
[3]. G Raccuglia, et al. Gray platelet syndrome. A variety of qualitative platelet disorder. Am J Med. 1971 Dec;51(6):818-28. [Content Brief]
[4]. Jorge Di Paola, et al. Thrombocytopenias due to gray platelet syndrome or THC2 mutations. Semin Thromb Hemost. 2011 Sep;37(6):690-7. [Content Brief]
[5]. Meral Gunay-Aygun, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet. 2011 Jul 17;43(8):732-4. [Content Brief]
[6]. Walter H A Kahr, et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet. 2011 Jul 17;43(8):738-40. [Content Brief]
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