학술논문
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Document Type
Article
Author
Plotkin, Scott R.; Messiaen, Ludwine; Legius, Eric; Pancza, Patrice; Avery, Robert A.; Blakeley, Jaishri O.; Babovic-Vuksanovic, Dusica; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Giovannini, Marco; Gutmann, David H.; Hanemann, Clemens Oliver; Kalamarides, Michel; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; MacCollin, Mia; Papi, Laura; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Smith, Miriam J.; Stemmer-Rachamimov, Anat; Stevenson, David A.; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Anten, Monique; Aylsworth, Arthur; Baralle, Diana; Barbarot, Sebastien; Barker, Fred; Ben-Shachar, Shay; Bergner, Amanda; Bessis, Didier; Blanco, Ignacio; Cassiman, Catherine; Ciavarelli, Patricia; Clementi, Maurizio; Frébourg, Thierry; Gomes, Alicia; Halliday, Dorothy; Helen Hanson Arvid Heiberg, Chris Hammond; Joly, Pascal; Jordan, Justin T.; Karajannis, Matthias; Kroshinsky, Daniela; Larralde, Margarita; Lázaro, Conxi; Le, Lu; Link, Michael; Listernick, Robert; Mallucci, Conor; Merker, Vanessa L.; Moertel, Christopher; Mueller, Amy; Ngeow, Joanne; Oostenbrink, Rianne; Packer, Roger; Parry, Allyson; Peltonen, Juha; Pichard, Dominique; Poppe, Bruce; Rezende, Nilton; Rodrigues, Luiz Oswaldo; Rosser, Tena; Ruggieri, Martino; Serra, Eduard; Steinke-Lange, Verena; Stivaros, Stavros Michael; Taylor, Amy; Toelen, Jaan; Tonsgard, James; Trevisson, Eva; Upadhyaya, Meena; Varan, Ali; Wilson, Meredith; Wu, Hao; Zadeh, Gelareh; Huson, Susan M.; Wolkenstein, Pierre; Evans, D. Gareth
Source
Genetics in Medicine; September 2022, Vol. 24 Issue: 9 p1967-1977, 11p
Subject
Language
ISSN
10983600; 15300366
Abstract
Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging.