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Revised diagnostic ...
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
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Legius, E. (author)
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Messiaen, L. (author)
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Wolkenstein, P. (author)
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Pancza, P. (author)
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Avery, R. A. (author)
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Berman, Y. (author)
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Blakeley, J. (author)
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Babovic-Vuksanovic, D. (author)
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Cunha, K. S. (author)
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Ferner, R. (author)
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Fisher, M. J. (author)
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Friedman, J. M. (author)
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Gutmann, D. H. (author)
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Kehrer-Sawatzki, H. (author)
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Korf, B. R. (author)
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Mautner, V. F. (author)
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- Peltonen, Sirkku, 1964 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för dermatologi och venereologi,Institute of Clinical Sciences, Department of Dermatology and Venereology
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Rauen, K. A. (author)
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Riccardi, V. (author)
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Schorry, E. (author)
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Stemmer-Rachamimov, A. (author)
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Stevenson, D. A. (author)
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Tadini, G. (author)
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Ullrich, N. J. (author)
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Viskochil, D. (author)
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Wimmer, K. (author)
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Yohay, K. (author)
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Huson, S. M. (author)
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Evans, D. G. (author)
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Plotkin, S. R. (author)
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(creator_code:org_t)
- Elsevier BV, 2021
- 2021
- English.
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In: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 23, s. 1506-1513
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
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- 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 method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. Results 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. Conclusion 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- choroidal abnormalities
- sequence variants
- mutation analysis
- gene
- mosaicism
- identification
- reveals
- Genetics & Heredity
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Legius, E.
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Messiaen, L.
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Wolkenstein, P.
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Pancza, P.
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Avery, R. A.
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Berman, Y.
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show more...
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Blakeley, J.
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Babovic-Vuksanov ...
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Cunha, K. S.
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Ferner, R.
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Fisher, M. J.
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Friedman, J. M.
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Gutmann, D. H.
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Kehrer-Sawatzki, ...
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Korf, B. R.
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Mautner, V. F.
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Peltonen, Sirkku ...
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Rauen, K. A.
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Riccardi, V.
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Schorry, E.
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Stemmer-Rachamim ...
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Stevenson, D. A.
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Tadini, G.
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Ullrich, N. J.
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Viskochil, D.
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Wimmer, K.
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Yohay, K.
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Huson, S. M.
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Evans, D. G.
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Plotkin, S. R.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Genetics in Medi ...
- By the university
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University of Gothenburg