Phenotypes and genotypes in individuals with SMC1A variants

Author(s):
Huisman, S.; Mulder, P.A.; Redeker, E.; Bader, I.; Bisgaard, A.M.; Brooks, A.; Cereda, A.; Cinca, C.; Clark, D.; Cormier-Daire, V.; Deardorff, M.A.; Diderich, K.; Elting, M.; Essen, A. van; FitzPatrick, D.; Gervasini, C.; Gillessen-Kaesbach, G.; Girisha, K.M.; Hilhorst-Hofstee, Y.; Hopman, S.; Horn, D.; Isrie, M.; Jansen, S.; Jespersgaard, C.; Kaiser, F.J.; Kaur, M.; Kleefstra, T.; Krantz, I.D.; Lakeman, P.; Landlust, A.; Lessel, D.; Michot, C.; Moss, J.; Noon, S.E.; Oliver, C.; Parenti, I.; Pie, J.; Ramos, F.J.; Rieubland, C.; Russo, S.; Selicorni, A.; Tumer, Z.; Vorstenbosch, R.; Wenger, T.L.; Balkom, I. van; Piening, S.; Wierzba, J.; Hennekam, R.C.
Published
2017
Publication type
Article / Letter to editor
behaviorBrachmann-De Lange syndromeCornelia de Lange syndromeNIPBLRett syndromeself-injurious behaviorseverity scoreSMC1Asyndrome delineation
Date issued
2017-08-31
Language
English
Is part of
American Journal of Medical Genetics Part A (2017), Vol. 173, no. 8, p. 2108-2125
hdl
1887/94919
doi
10.1002/ajmg.a.38279