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revised diagnostic criteria for neurofibromatosis type 1: a standalone construct

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revised diagnostic criteriafor neurofibromatosis type 11 CONSTRUCTRevised diagnosticLEGIUS · MEDICAL GENETICS

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Medical genetics

international consensus criteria diagnosing neurofibromatosis type 1 from features such as cafe-au-lait macules, neurofibromas, optic glioma and a pathogenic NF1 variant.

In medical genetics, revised diagnostic criteria for neurofibromatosis type 1 refers to international consensus criteria diagnosing neurofibromatosis type 1 from features such as cafe-au-lait macules, neurofibromas, optic glioma and a pathogenic NF1 variant. This meaning comes from Legius (2021) in Genetics in Medicine.[1]

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Nearby constructs

consensus4 fields · 4 citationsjingle · one word, four constructstype4 fields · 4 citationsjingle · one word, four constructsvariant3 fields · 5 citationsjingle · one word, three constructs

References

  1. Legius, E., Messiaen, L., Wolkenstein, P., Pancza, P., Avery, R. A., Berman, Y., Blakeley, J., Babovic-Vuksanovic, D., Cunha, K. S., Ferner, R., Fisher, M. J., Friedman, J. M., Gutmann, D. H., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V., Peltonen, S., Rauen, K. A., Riccardi, V., Schorry, E., Stemmer-Rachamimov, A., Stevenson, D. A., Tadini, G., Ullrich, N. J., Viskochil, D., Wimmer, K., Yohay, K., Gomes, A., Jordan, J. T., Mautner, V., Merker, V. L., Smith, M. J., 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, C. O., 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, L. O., Rosser, T., Ruggieri, M., Serra, E., Steinke-Lange, V., Stivaros, S. M., Taylor, A., Toelen, J., Tonsgard, J., Trevisson, E., Upadhyaya, M., Varan, A., Wilson, M., Wu, H., Zadeh, G., Huson, S. M., Evans, D. G., & Plotkin, S. R. (2021). Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine, 23(8), 1506-1513. https://doi.org/10.1038/s41436-021-01170-5

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