遗传性出血端膜切除症:从信号洞察到治疗进展

Tala Al Tabosh1, Mohammad Al Tarrass1, Laura Tourvieilhe2

  • 1Biosanté Unit U1292, Grenoble Alpes University, INSERM, CEA, Grenoble, France.

概括

遗传性出血端膜炎症 (HHT) 是一种遗传性血管疾病,由BMP9-10/ENG/ALK1/SMAD4通路的突变引起. 目前的治疗方法看起来很有前途,但对于这种出血障碍,没有FDA批准的治疗方法.

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