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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international conse...

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international conse...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_gup_ub_gu_se_305494

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

About this item

Full title

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

Author / Creator

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

Publisher

New York: Elsevier Inc

Journal title

Genetics in medicine, 2021-08, Vol.23 (8), p.1506-1513

Language

English

Formats

Publication information

Publisher

New York: Elsevier Inc

More information

Scope and Contents

Contents

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).
We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF...

Alternative Titles

Full title

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

Authors, Artists and Contributors

Author / Creator

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_swepub_primary_oai_gup_ub_gu_se_305494

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_gup_ub_gu_se_305494

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/s41436-021-01170-5