Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

R. Plotkin, Scott; Messiaen, Ludwine; Legius, Eric; Pancza, Patrice; A. Avery, Robert; O. Blakeley, Jaishri; Babovic‐Vuksanovic, Dusica; E. Ferner, Rosalie; J. Fisher, Michael; M. Friedman, Jan; Giovannini, Marco; H. Gutmann, David; Oliver Hanemann, C.; Kalamarides, Michel; Kehrer‐Sawatzki, Hildegard; R. Korf, Bruce; Mautner, Victor‐Felix; MacCollin, Mia; Papi, Laura; A. Rauen, Katherine; M. Riccardi, Vincent; K. Schorry, Elizabeth; J. Smith, Miriam; Stemmer‐Rachamimov, Anat; A. Stevenson, David; J. Ullrich, Nicole; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Anten, Monique; S. Aylsworth, Arthur; Baralle, Diana; Barbarot, S.; G. Barker, Fred; Ben‐Shachar, Shay; L. Bergner, Amanda; Bessis, D.; Blanco, Ignacio; Cassiman, Cathérine; Ciavarelli, Patricia; Clementi, Maurizio; Frébourg, Thierry; Gomes, Alicia; Halliday, Dorothy; Hammond Helen Hanson Arvid Heiberg, Chris; Ly, K.H.; T. Jordan, Justin; A. Karajannis, Matthias; Kroshinsky, Daniela; Larralde, Margarita; Lázaro, Conxi; Q. Le, Lu; P. Link, Michael; Listernick, Robert; Mallucci, Conor; L. Merker, Vanessa; L. Moertel, Christopher; Mueller, Amy; Ngeow, Joanne; Oostenbrink, Rianne; J. Packer, Roger; Parry, Allyson; Peltonen, Juha; C. Pichard, Dominique; Poppe, Bruce; Alves de Rezende, Nilton; Oswaldo Carneiro Rodrigues, Luiz; Rosser, Tena; Ruggieri, Martino; Serra, Eduard; Steinke‐Lange, Verena; Stivaros, Stavros; Taylor, Amy; Toelen, Jaan; H. Tonsgard, James; Trevisson, Eva; Upadhyaya, Meena; Varan, Ali; Wilson, Meredith; Wu, Hao; Zadeh, Gelareh; Huson, Susan; Wolkenstein, P.; Gareth Evans, D.

doi:10.1016/j.gim.2022.05.007

Public

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Published in Genetics in Medicine • Jun 9, 2022

Authors:

Scott R. Plotkin

Ludwine Messiaen

Eric Legius

Abstract

PURPOSE: 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 neuroima...

Subject

Neurofibromatosis

Medicine

Nomenclature

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!