Atypical late diagnosis of Noonan syndrome revealed by bleedings due to platelet dysfunction
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine,Hematology
Link
https://link.springer.com/content/pdf/10.1007/s11239-021-02547-8.pdf
Reference8 articles.
1. Clemetson KJ (2012) Platelets and primary haemostasis. Thromb Res 129(3):220–224
2. Rao AK (2013) Inherited platelet function disorders: overview and disorders of granules, secretion, and signal transduction. Hematol Oncol Clin North Am 27(3):585–611
3. Rand ML, Reddy EC, Israels SJ (2018) Laboratory diagnosis of inherited platelet function disorders. Transfus Apher Sci 57(4):485–493
4. Nurden AT, Nurden P (2015) Inherited disorders of platelet function: selected updates. J Thromb Haemost 13(Suppl 1):S2–S9
5. Han CG et al (2018) Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. Am J Med Genet A 176(12):2819–2823
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