Gray Platelet Syndrome with Severe Thrombocytopenia: A Novel NBEAL2 Gene Variant from India
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
https://link.springer.com/content/pdf/10.1007/s12288-022-01531-3.pdf
Reference5 articles.
1. Nurden AT, Nurden P (2020) Inherited thrombocytopenias: history, advances and perspectives. Haematologica 105(8):2004–2019. https://doi.org/10.3324/haematol.2019.233197
2. Glembotsky AC, De Luca G, Heller PG (2021) A deep dive into the pathology of gray platelet syndrome: new insights on immune dysregulation. J Blood Med 12:719–732. https://doi.org/10.2147/JBM.S270018
3. Pluthero FG, Di Paola J, Carcao MD, Kahr WHA (2018) NBEAL2 mutations and bleeding in patients with gray platelet syndrome. Platelets 29(6):632–635. https://doi.org/10.1080/09537104.2018.1478405
4. Bottega R, Pecci A, De Candia E et al (2013) Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency. Haematologica 98(6):868–874. https://doi.org/10.3324/haematol.2012.075861
5. Shahraki H, Dorgalaleh A, Bain BJ (2018) Gray platelet syndrome (GPS). In: Dorgalaleh A, (ed) Congenital bleeding disorders. Springer, Cham. doi: https://doi.org/10.1007/978
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1. Gray Platelet Syndrome in a Neonate With VACTERL Association: A Novel Homozygous Pathogenic Variant c.5257C>T in the NBEAL2 Gene;Cureus;2023-11-06
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