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• W2987471755 abstract "Abstract Defects of platelet intracellular signaling can result in severe platelet dysfunction. Several mutations in each of the linked genes FERMT3 and RASGRP2 on chromosome 11 causing a Glanzmann‐like bleeding phenotype have been identified so far. We report on novel variants in two unrelated pediatric patients with severe bleeding diathesis—one with leukocyte adhesion deficiency type III due to a homozygous frameshift in FERMT3 and the other with homozygous variants in both, FERMT3 and RASGRP2 . We focus on the challenging genetic and functional variant assessment and aim to accentuate the risk of obtaining misleading results due to the phenomenon of genetic linkage." @default.
• W2987471755 created "2019-11-22" @default.
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• W2987471755 date "2019-11-14" @default.
• W2987471755 modified "2023-10-02" @default.
• W2987471755 title "Novel variants in <i>FERMT3</i> and <i>RASGRP2</i> —Genetic linkage in Glanzmann‐like bleeding disorders" @default.
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• W2987471755 doi "https://doi.org/10.1002/pbc.28078" @default.
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