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FXTAS: New insights and the need for revised diagnostic criteria

✍ Scribed by Apartis, E.; Blancher, A.; Meissner, W. G.; Guyant-Marechal, L.; Maltete, D.; De Broucker, T.; Legrand, A.-P.; Bouzenada, H.; Thanh, H. T.; Sallansonnet-Froment, M.; Wang, A.; Tison, F.; Roue-Jagot, C.; Sedel, F.; Charles, P.; Whalen, S.; Heron, D.; Thobois, S.; Poisson, A.; Lesca, G.; Ouvrard-Hernandez, A.-M.; Fraix, V.; Palfi, S.; Habert, M.-O.; Gaymard, B.; Dussaule, J.-C.; Pollak, P.; Vidailhet, M.; Durr, A.; Barbot, J.-C.; Gourlet, V.; Brice, A.; Anheim, M.

Book ID
115536756
Publisher
Lippincott Williams and Wilkins
Year
2012
Tongue
English
Weight
727 KB
Volume
79
Category
Article
ISSN
0028-3878

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In 1986, the diagnosis of the Marfan syndrome was codified on the basis of clinical criteria in the Berlin nosology [Beighton et al., 19881. Over time, weaknesses have emerged in these criteria, a problem accentuated by the advent of molecular testing. In this paper, we propose a revision of diagnos