αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.

<h4>Background</h4>Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Syndrome (GTLS) or ITGA2B/ITG...

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Main Authors: Sara Morais, Jorge Oliveira, Catarina Lau, Mónica Pereira, Marta Gonçalves, Catarina Monteiro, Ana Rita Gonçalves, Rui Matos, Marco Sampaio, Eugénia Cruz, Inês Freitas, Rosário Santos, Margarida Lima
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0235136

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https://doi.org/10.1371/journal.pone.0235136

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