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Von Hippel-Lindau综合征基因及临床诊治进展

韩志礼,李长栋, 武弋,李金娟,孙建军,荔志云,南亚强,党莹,周杰

Medical Journal of National Defending Forces in Northwest China（2021）

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Abstract
逢希伯-林道(Von Hippel-Lindau,VHL)综合征是一种常染色体显性遗传型疾病,累计多个脏器,包括脑及脊髓血管网址细胞瘤、多囊胰腺、肾肿瘤、视网膜母细胞瘤、血红蛋白增多症等,其发病机理复杂,临床治疗难度较大,我院曾收治数例此类患者,通过多学科共同协作最终患者治愈.现就VHL综合征的概念、发病机理、基因学表现、治疗等作一综述.
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