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Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel-Lindau Disease.
Annals of Laboratory Medicine ( IF 4.9 ) Pub Date : 2021-12-16 , DOI: 10.3343/alm.2022.42.3.352
Sun Joo Yoon 1 , Won Kyung Kwon 1 , Geehay Hong 2 , Ja-Hyun Jang 1 , Byong Chang Jeong 3, 4 , Jae Hyeon Kim 4, 5 , Jong-Won Kim 1, 4
Affiliation  

von Hippel-Lindau (VHL) disease is an autosomal dominant disorder caused by variants of the VHL tumor suppressor gene (VHL). Early detection and treatment are essential to prevent morbidity and mortality. We evaluated the effectiveness of surveillance strategies and the utility of a VHL clinic with a multidisciplinary team for the first time in Korea.

中文翻译:

在 von Hippel-Lindau 病中使用多学科方法进行遗传咨询和长期监测。

von Hippel-Lindau (VHL) 病是一种由 VHL 肿瘤抑制基因 ( VHL )变异引起的常染色体显性遗传病。早期发现和治疗对于预防发病率和死亡率至关重要。我们首次在韩国与多学科团队一起评估了监测策略的有效性和 VHL 诊所的效用。
更新日期:2021-12-16
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