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Huina Su
Huina Su

Public Documents 1
Glanzmann Thrombasthenia due to ITGA2B mutation: report of a China family
Huina Su
Yang Xin

Huina Su

and 1 more

January 31, 2024
Objective: We describe physical and histological features, and the molecular impact of mutation ITGA2B in a non-consanguineous China family. In addition, we explore the fertility feasibility, pre-pregnancy guidance of GT patients ,and how to avoid live births with GT. Methods: We report two female patients, daughters of non-consanguineous parents. The platelet aggregation rate showed a low pattern. TRIO whole exome sequencing was requested. Results The patients received the LNG-IUS as treatment for HMB. The study identified two genetic variants on chr17:42457372 and chr17:42457057.

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