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10p12.1的家族删除与血小板缺血有关

Sujal Manohar1, Yoel Gofin1, Haley Streff1

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

American journal of medical genetics. Part A
|September 25, 2023
PubMed
概括

在一个患有先天性血小板缺陷的家庭中,在10p12.1区域发现了一种母性遗传缺陷. 这种删除影响ANKRD26和MAST的基因,表明遗传出血障碍的潜在原因.

关键词:
10p12.1 一个小时的时间.在 ANKRD2626 里面.马斯特尔是最重要的.这是THC2THC2THC2家庭的删除,家族的删除.血小板细胞减少症 (Thrombocytopenia) 是一种

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