在患有血小板缺血和出血倾向的兄弟姐妹中发现了一种新的同卵性GFI1B突变

Shova Aryal1, Surabhi Aryal2, Sangit Adhikari1

  • 1Maharajgunj Medical Campus, Institute of Medicine Tribhuvan University Kathmandu Nepal.

Clinical case reports
|October 3, 2025
PubMed
概括

血小板类型出血障碍17,由GFI1B基因突变引起,出现出血和血小板缺血,经常被误诊为ITP. 基因检测对于诊断这种遗传性血小板疾病至关重要.

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