Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models

T. Nurden, Alan; Fiore, Mathieu; Nurden, Paquita; Pillois, Xavier

doi:10.1182/blood-2011-07-365635

Public

Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models

Published in Blood • Sep 15, 2011

Authors:

Alan T. Nurden

Mathieu Fiore

Paquita Nurden

Abstract

Characterized by mucocutaneous bleeding arising from a lack of platelet aggregation to physiologic stimuli, Glanzmann thrombasthenia (GT) is the archetype-inherited disorder of platelets. Transmitted by autosomal recessive inheritance, platelets in GT have quantitative or qualitative deficiencies of...

Subject

Biology

Penetrance

Phenotype

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