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神经纤维瘤病 1 型、神经纤维瘤病 2 型和施万细胞瘤遗传咨询——美国遗传咨询师协会实践资源

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.

机构信息

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

Children's Tumor Foundation, New York, New York, USA.

出版信息

J Genet Couns. 2020 Oct;29(5):692-714. doi: 10.1002/jgc4.1303. Epub 2020 Jun 29.

Abstract

The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic counseling services to individuals and families undergoing evaluation for neurofibromatosis (NF) or who have received a diagnosis of NF, including NF1, NF2, and schwannomatosis. This resource represents the opinions of a multi-center working group of Certified Genetic Counselors with experience in the care of individuals with NF, providing topics to be considered for the incorporation into a clinical genetic counseling session.

摘要

本实践资源的目标是为遗传咨询师和其他医疗保健专业人员提供一个参考资源,以便在为正在接受神经纤维瘤病(NF)评估或已被诊断为 NF 的个体和家庭提供遗传咨询服务时使用,包括 NF1、NF2 和神经鞘瘤病。本资源代表了具有 NF 患者护理经验的多中心认证遗传咨询师工作组的意见,提供了一些需要考虑纳入临床遗传咨询会议的主题。

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