发布日期： 2022-06-08
制定者：国外神经内科相关专家小组（统称）
出处： Genet Med.2022 Jun 8；
作者信息
Scott R. Plotkin1,* , Ludwine Messiaen2, Eric Legius3, Patrice Pancza4, Robert A. Avery5 , Jaishri O. Blakeley6, Dusica Babovic-Vuksanovic7, Rosalie Ferner8, Michael J. Fisher9,Jan M. Friedman10, Marco Giovannini11, David H. Gutmann12, Clemens Oliver Hanemann13 , Michel Kalamarides14, Hildegard Kehrer-Sawatzki15, Bruce R.Korf2, Victor-Felix Mautner16 , Mia MacCollin17, Laura Papi18, Katherine A. Rauen19, Vincent Riccardi20, Elizabeth Schorry21 , Miriam J. Smith22, Anat Stemmer-Rachamimov23, David A. Stevenson24, Nicole J. Ullrich25,David Viskochil26, Katharina Wimmer27, Kaleb Yohay28, On behalf of the International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Susan M. Huson29, Pierre Wolkenstein30, Dafydd Gareth Evans22
概述
2型神经纤维瘤病的神经鞘瘤病是遗传上不同的两种肿瘤易感综合征，具有重叠表型。本文结合遗传性、眼科学、神经病理学和神经影像学的最新进展，更新了这两种疾病的诊断标准。
