Phenotypes and genotypes in individuals with SMC1A variants

Huisman, S.; Mulder, P.A.; Redeker, E.; Bader, I.; Bisgaard, A.M.; Brooks, A.; ... ; Hennekam, R.C. (2017)

Article / Letter to editor

• behavior
• Brachmann-De Lange syndrome
• Cornelia de Lange syndrome
• NIPBL
• Rett syndrome
• self-injurious behavior
• severity score
• SMC1A
• syndrome delineation

• All authors: 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.
• Date: 2017-08-31
• Journal: American Journal of Medical Genetics Part A
• Volume: 173
• Issue: 8
• Pages: 2108 - 2125
• DOI: doi:10.1002/ajmg.a.38279