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

    Legius, E; Messiaen, L; Wolkenstein, P; Pancza, P; Avery, RA; Berman, Y; Blakeley, J; Babovic-Vuksanovic, D; Cunha, KS; Ferner, R; Fisher, MJ; Friedman, JM; Gutmann, DH; Kehrer-Sawatzki, H; Korf, BR; Mautner, V-F; Peltonen, S; Rauen, KA; Riccardi, V; Schorry, E; Stemmer-Rachamimov, A; Stevenson, DA; Tadini, G; Ullrich, NJ; Viskochil, D; Wimmer, K; Yohay, K; Gomes, A; Jordan, JT; Mautner, V; Merker, VL; Smith, MJ; Stevenson, D; Anten, M; Aylsworth, A; Baralle, D; Barbarot, S; Barker, F; Ben-Shachar, S; Bergner, A; Bessis, D; Blanco, I; Cassiman, C; Ciavarelli, P; Clementi, M; Frébourg, T; Giovannini, M; Halliday, D; Hammond, C; Hanemann, CO; Hanson, H; Heiberg, A; Joly, P; Kalamarides, M; Karajannis, M; Kroshinsky, D; Larralde, M; Lázaro, C; Le, L; Link, M; Listernick, R; MacCollin, M; Mallucci, C; Moertel, C; Mueller, A; Ngeow, J; Oostenbrink, R; Packer, R; Papi, L; Parry, A; Peltonen, J; Pichard, D; Poppe, B; Rezende, N; Rodrigues, LO; Rosser, T; Ruggieri, M; Serra, E; Steinke-Lange, V; Stivaros, SM; Taylor, A; Toelen, J; Tonsgard, J; Trevisson, E; Upadhyaya, M; Varan, A; Wilson, M; Wu, H; Zadeh, G; Huson, SM; Evans, DG; Plotkin, SR (American College of Medical Genetics and Genomics, 2021-08)
    <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 ...

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