神经纤维瘤病
2型神经纤维瘤病
医学
心理学
儿科
病理
作者
Nino Kerashvili,David H. Gutmann
标识
DOI:10.1080/14737175.2024.2324117
摘要
Introduction Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder characterized by multiple organ system involvement and a predisposition to benign and malignant tumor development. With revised NF1 clinical criteria and the availability of germline genetic testing, there is now an opportunity to render an early diagnosis, expedite medical surveillance, and initiate treatment in a prompt and targeted manner.
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