Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Legius, Eric; Messiaen, Ludwine; Wolkenstein, P.; Pancza, Patrice; A. Avery, Robert; Berman, Yemima; O. Blakeley, Jaishri; Babovic‐Vuksanovic, Dusica; Soares Cunha, Karin; E. Ferner, Rosalie; J. Fisher, Michael; M. Friedman, Jan; H. Gutmann, David; Kehrer‐Sawatzki, Hildegard; R. Korf, Bruce; Mautner, Victor‐Felix; Peltonen, Sirkku; A. Rauen, Katherine; M. Riccardi, Vincent; K. Schorry, Elizabeth; Stemmer‐Rachamimov, Anat; A. Stevenson, David; Tadini, Gianluca; J. Ullrich, Nicole; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Gomes, Alicia; T. Jordan, Justin; Mautner, Victor; L. Merker, Vanessa; J. Smith, Miriam; A. Stevenson, David; 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; Giovannini, Marco; Halliday, Dorothy; Hammond, Chris; Oliver Hanemann, C.; Hanson, Helen; Heiberg, Arvid; Ly, K.H.; Kalamarides, Michel; A. Karajannis, Matthias; Kroshinsky, Daniela; Larralde, Margarita; Lázaro, Conxi; Q. Le, Lu; P. Link, Michael; Listernick, Robert; MacCollin, Mia; Mallucci, Conor; L. Moertel, Christopher; Mueller, Amy; Ngeow, Joanne; Oostenbrink, Rianne; J. Packer, Roger; Papi, Laura; 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; Gareth Evans, D.; R. Plotkin, Scott

doi:10.1038/s41436-021-01170-5

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Published in Genetics in Medicine • Jun 4, 2021

Authors:

Eric Legius

Ludwine Messiaen

P. Wolkenstein

Abstract

PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We used a multistep process, beginning with a Delphi ...

Subject

Medicine

Neurofibromatosis

Delphi method

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