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

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

Open Access

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

Author(s) -

Scott R. Plotkin,

Ludwine Messiaen,

Eric Legius,

Patrice Pancza,

Robert A. Avery,

Jaishri O. Blakeley,

Dusica BabovicVuksanovic,

Rosalie E. Ferner,

Michael J. Fisher,

Jan M. Friedman,

Marco Giovannini,

David H. Gutmann,

C. Oliver Hanemann,

Michel Kalamarides,

Hildegard KehrerSawatzki,

Bruce R. Korf,

VictorFelix Mautner,

Mia MacCollin,

Laura Papi,

Katherine A. Rauen,

Vincent M. Riccardi,

Elizabeth K. Schorry,

Miriam J. Smith,

Anat StemmerRachamimov,

David A. Stevenson,

Nicole J. Ullrich,

David Viskochil,

Katharina Wimmer,

Kaleb Yohay,

Monique Anten,

Arthur S. Aylsworth,

Diana Baralle,

S. Barbarot,

Fred G. Barker,

Shay BenShachar,

Amanda L. Bergner,

D. Bessis,

Ignacio Blanco,

Cathérine Cassiman,

Patricia Ciavarelli,

Maurizio Clementi,

Thierry Frébourg,

Alicia Gomes,

Dorothy Halliday,

Chris Hammond Helen Hanson Arvid Heiberg,

K.H. Ly,

Justin T. Jordan,

Matthias A. Karajannis,

Daniela Kroshinsky,

Margarita Larralde,

Conxi Lázaro,

Lu Q. Le,

Michael P. Link,

Robert Listernick,

Conor Mallucci,

Vanessa L. Merker,

Christopher L. Moertel,

Amy Mueller,

Joanne Ngeow,

Rianne Oostenbrink,

Roger J. Packer,

Allyson Parry,

Juha Peltonen,

Dominique C. Pichard,

Bruce Poppe,

Nilton Alves de Rezende,

Luiz Oswaldo Carneiro Rodrigues,

Tena Rosser,

Martino Ruggieri,

Eduard Serra,

Verena SteinkeLange,

Stavros Stivaros,

Amy Taylor,

Jaan Toelen,

James H. Tonsgard,

Eva Trevisson,

Meena Upadhyaya,

Ali Varan,

Meredith Wilson,

Hao Wu,

Gelareh Zadeh,

Susan Huson,

P. Wolkenstein,

D. Gareth Evans

Publication year - 2022

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1016/j.gim.2022.05.007

Subject(s) - neurofibromatosis , medicine , nomenclature , neurofibromatosis type 2 , delphi method , neurofibromatoses , genetic testing , pathology , computer science , biology , artificial intelligence , taxonomy (biology) , botany

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.

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