Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation-Reference-Cited by-同舟云学术

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

Published:2022-09 Issue:9 Volume:24 Page:1967-1977
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Plotkin Scott R.^ORCID,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,Huson Susan M.,Wolkenstein Pierre,Evans D. Gareth,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

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference41 articles.

1. A clinical study of type 2 neurofibromatosis;Evans;Q J Med,1992

2. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation;Legius;Genet Med,2021

3. Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing;Evans;Genet Med,2019

4. Schwannomatosis: a clinical entity distinct from neurofibromatosis type 2;Wolkenstein;Dermatology,1997

5. Schwannomatosis: a clinical and pathologic study;MacCollin;Neurology,1996

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