Article
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
Haematologica - 1 Feb 2021
Nurden Paquita, Stritt Simon, Favier Remi, Nurden Alan T
Abstract excerpt
Inherited platelet disorders resulting from platelet function defects and a normal platelet count cause a moderate or severe bleeding diathesis. Since the description of Glanzmann thrombasthenia resulting from defects of ITGA2B and ITGB3, new inherited platelet disorders have been discovered, facilitated by the use of high throughput sequencing and genomic analyses. Defects of RASGRP2 and FERMT3 responsible for...
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