Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition
半面肌增生是由于躯体肌肉 PIK3CA 获得功能突变引起的,可通过药物抑制来治疗
期刊:Journal of Experimental Medicine
影响因子:12.6
doi:10.1084/jem.20230926
Charles Bayard #, Eleonora Segna #, Maxime Taverne #, Antoine Fraissenon #, Quentin Hennocq, Baptiste Periou, Lola Zerbib, Sophia Ladraa, Célia Chapelle, Clément Hoguin, Sophie Kaltenbach, Patrick Villarese, Vahid Asnafi, Christine Broissand, Ivan Nemazanyy, Gwennhael Autret, Nicolas Goudin, Christo