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Management of a twin pregnancy patient with Glanzmann thrombasthenia might be caused by a novel ITGA2B gene mutation (c.2822G>A): a case report and family investigation

Mutations in the ITGA2B or ITGB3 gene that encodes for the αIIbβ3 platelet integrin usually cause Glanzmann thrombasthenia (GT). This study aims to investigate the clinical characteristics of a pedigree exhibiting an inherited hemorrhagic disorder resembling GT, elucidate its molecular pathogenesis...

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Autori principali: Xiangcheng Liao, Ruikai Zhu, Zhigang Yang, Aiqiu Qin, Yucong Huang, Ping Li, Liling Liu, Zhuning Mo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Taylor & Francis Group 2025-12-01
Serie:Platelets
Soggetti:
Glanzmann thrombastenia
ITGA2B
platelets
recombinant factor VIIa
thromboelastography
Accesso online:https://www.tandfonline.com/doi/10.1080/09537104.2025.2470758
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