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Xu, C. Gray Platelet Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4059 (accessed on 29 September 2026).
Xu C. Gray Platelet Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4059. Accessed September 29, 2026.
Xu, Camila. "Gray Platelet Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4059 (accessed September 29, 2026).
Xu, C. (2020, December 23). Gray Platelet Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4059
Xu, Camila. "Gray Platelet Syndrome." Encyclopedia. Web. 23 December, 2020.
Gray Platelet Syndrome
Edit

Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting.

genetic conditions

References

  1. Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G,Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S,Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH.Exome sequencing identifies NBEAL2 as the causative gene for gray plateletsyndrome. Nat Genet. 2011 Jul 17;43(8):735-7. doi: 10.1038/ng.885.
  2. Bottega R, Pecci A, De Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D,Podda GM, Glembotsky AC, Cattaneo M, Balduini CL, Savoia A. Correlation betweenplatelet phenotype and NBEAL2 genotype in patients with congenitalthrombocytopenia and α-granule deficiency. Haematologica. 2013 Jun;98(6):868-74. doi: 10.3324/haematol.2012.075861.
  3. Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M,Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, WhiteJG, Huizing M, Gahl WA. NBEAL2 is mutated in gray platelet syndrome and isrequired for biogenesis of platelet α-granules. Nat Genet. 2011 Jul17;43(8):732-4. doi: 10.1038/ng.883.
  4. Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, KletaR, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P,Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T.Gray platelet syndrome: natural history of a large patient cohort and locusassignment to chromosome 3p. Blood. 2010 Dec 2;116(23):4990-5001. doi:10.1182/blood-2010-05-286534.
  5. Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM,Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J.Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet. 2011 Jul 17;43(8):738-40. doi: 10.1038/ng.884.
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Update Date: 23 Dec 2020
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