Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

Glanzmann thrombasthenia (GT) is a rare inherited disease characterized by mucocutaneous bleeding due to the abnormalities in quantity or quality of platelet membrane GP IIb (CD41) or GP IIIa (CD61). GP IIb and GP IIIa are encoded by the ITGA2B and ITGB3 genes, respectively. Herein, we described a 7...

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Bibliographic Details
Main Authors: Zhengrong Wang, Yuqing Xu, Yixi Sun, Shuang Wang, Minyue Dong
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Pediatrics
Subjects:
Glanzmann thrombasthenia
integrin αIIbβ3
ITGB3
silent mutation
whole exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.1062900/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.1062900/full

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