Show simple item record

dc.contributor.authorLegius, E
dc.contributor.authorMessiaen, L
dc.contributor.authorWolkenstein, P
dc.contributor.authorPancza, P
dc.contributor.authorAvery, RA
dc.contributor.authorBerman, Y
dc.contributor.authorBlakeley, J
dc.contributor.authorBabovic-Vuksanovic, D
dc.contributor.authorCunha, KS
dc.contributor.authorFerner, R
dc.contributor.authorFisher, MJ
dc.contributor.authorFriedman, JM
dc.contributor.authorGutmann, DH
dc.contributor.authorKehrer-Sawatzki, H
dc.contributor.authorKorf, BR
dc.contributor.authorMautner, V-F
dc.contributor.authorPeltonen, S
dc.contributor.authorRauen, KA
dc.contributor.authorRiccardi, V
dc.contributor.authorSchorry, E
dc.contributor.authorStemmer-Rachamimov, A
dc.contributor.authorStevenson, DA
dc.contributor.authorTadini, G
dc.contributor.authorUllrich, NJ
dc.contributor.authorViskochil, D
dc.contributor.authorWimmer, K
dc.contributor.authorYohay, K
dc.contributor.authorGomes, A
dc.contributor.authorJordan, JT
dc.contributor.authorMautner, V
dc.contributor.authorMerker, VL
dc.contributor.authorSmith, MJ
dc.contributor.authorStevenson, D
dc.contributor.authorAnten, M
dc.contributor.authorAylsworth, A
dc.contributor.authorBaralle, D
dc.contributor.authorBarbarot, S
dc.contributor.authorBarker, F
dc.contributor.authorBen-Shachar, S
dc.contributor.authorBergner, A
dc.contributor.authorBessis, D
dc.contributor.authorBlanco, I
dc.contributor.authorCassiman, C
dc.contributor.authorCiavarelli, P
dc.contributor.authorClementi, M
dc.contributor.authorFrébourg, T
dc.contributor.authorGiovannini, M
dc.contributor.authorHalliday, D
dc.contributor.authorHammond, C
dc.contributor.authorHanemann, Clemens Oliver
dc.contributor.authorHanson, H
dc.contributor.authorHeiberg, A
dc.contributor.authorJoly, P
dc.contributor.authorKalamarides, M
dc.contributor.authorKarajannis, M
dc.contributor.authorKroshinsky, D
dc.contributor.authorLarralde, M
dc.contributor.authorLázaro, C
dc.contributor.authorLe, L
dc.contributor.authorLink, M
dc.contributor.authorListernick, R
dc.contributor.authorMacCollin, M
dc.contributor.authorMallucci, C
dc.contributor.authorMoertel, C
dc.contributor.authorMueller, A
dc.contributor.authorNgeow, J
dc.contributor.authorOostenbrink, R
dc.contributor.authorPacker, R
dc.contributor.authorPapi, L
dc.contributor.authorParry, A
dc.contributor.authorPeltonen, J
dc.contributor.authorPichard, D
dc.contributor.authorPoppe, B
dc.contributor.authorRezende, N
dc.contributor.authorRodrigues, LO
dc.contributor.authorRosser, T
dc.contributor.authorRuggieri, M
dc.contributor.authorSerra, E
dc.contributor.authorSteinke-Lange, V
dc.contributor.authorStivaros, SM
dc.contributor.authorTaylor, A
dc.contributor.authorToelen, J
dc.contributor.authorTonsgard, J
dc.contributor.authorTrevisson, E
dc.contributor.authorUpadhyaya, M
dc.contributor.authorVaran, A
dc.contributor.authorWilson, M
dc.contributor.authorWu, H
dc.contributor.authorZadeh, G
dc.contributor.authorHuson, SM
dc.contributor.authorEvans, DG
dc.contributor.authorPlotkin, SR
dc.date.accessioned2021-10-15T12:48:59Z
dc.date.issued2021-08
dc.identifier.issn1098-3600
dc.identifier.issn1530-0366
dc.identifier.urihttp://hdl.handle.net/10026.1/18075
dc.description.abstract

<jats:title>Abstract</jats:title><jats:sec> <jats:title>Purpose</jats:title> <jats:p>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).</jats:p> </jats:sec><jats:sec> <jats:title>Methods</jats:title> <jats:p>We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups.</jats:p> </jats:sec><jats:sec> <jats:title>Results</jats:title> <jats:p>We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusion</jats:title> <jats:p>The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.</jats:p> </jats:sec>

dc.format.extent1506-1513
dc.format.mediumPrint-Electronic
dc.languageen
dc.language.isoen
dc.publisherAmerican College of Medical Genetics and Genomics
dc.subjectCafe-au-Lait Spots
dc.subjectConsensus
dc.subjectGenetic Testing
dc.subjectHumans
dc.subjectNeurofibromatosis 1
dc.titleRevised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
dc.typejournal-article
dc.typeJournal Article
dc.typeResearch Support, Non-U.S. Gov't
plymouth.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/34012067
plymouth.issue8
plymouth.volume23
plymouth.publication-statusPublished
plymouth.journalGenetics in Medicine
dc.identifier.doi10.1038/s41436-021-01170-5
plymouth.organisational-group/Plymouth
plymouth.organisational-group/Plymouth/Faculty of Health
plymouth.organisational-group/Plymouth/Faculty of Health/Peninsula Medical School
plymouth.organisational-group/Plymouth/REF 2021 Researchers by UoA
plymouth.organisational-group/Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine
plymouth.organisational-group/Plymouth/Research Groups
plymouth.organisational-group/Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED)
plymouth.organisational-group/Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED)/CBR
plymouth.organisational-group/Plymouth/Users by role
plymouth.organisational-group/Plymouth/Users by role/Academics
plymouth.organisational-group/Plymouth/Users by role/Researchers in ResearchFish submission
dc.publisher.placeUnited States
dcterms.dateAccepted2021-03-26
dc.rights.embargodate2021-10-16
dc.identifier.eissn1530-0366
dc.rights.embargoperiodNot known
rioxxterms.versionofrecord10.1038/s41436-021-01170-5
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2021-08
rioxxterms.typeJournal Article/Review


Files in this item

Thumbnail
Thumbnail

This item appears in the following Collection(s)

Show simple item record


All items in PEARL are protected by copyright law.
Author manuscripts deposited to comply with open access mandates are made available in accordance with publisher policies. Please cite only the published version using the details provided on the item record or document. In the absence of an open licence (e.g. Creative Commons), permissions for further reuse of content should be sought from the publisher or author.
Theme by 
Atmire NV