摘要:PTPN11基因(tyrosine-protein phosphatase non-receptor type 11)编码蛋白SHP-2参与多种细胞生命活动。PTPN11基因突变与血液系统肿瘤、实体肿瘤、先天性心脏畸形等多种疾病相关。近年来临床研究发现PTPN11基因突变也与耳聋发病相关,但对PTPN11基因突变相关听力降低的临床认识以及该基因编码的蛋白质参与的信号通路机制尚未阐明。
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