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

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. We...

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Veröffentlicht in:	Genetics in medicine 2022-09, Vol.24 (9), p.1967-1977
Hauptverfasser:	Plotkin, Scott R., 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, Dafydd Gareth
Format:	Artikel
Sprache:	eng
Schlagworte:	advocacy Delphi method diagnostic specificity Life Sciences lztr1 neoplasms Neurofibromatosis neuropathology NF2 ophthalmology patients phenotype Schwannomatosis SMARCB1
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