학술논문
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
Document Type
Article
Author
Ansari, M.; Grimes, G.; Blatnik, A.; FitzPatrick, D.R.; Faour, K.N.W.; Rockowitz, S.; Groopman, E.; O'Donnell-Luria, A.; Boone, P.M.; Ballal, S.; Srivastava, S.; Shimamura, A.; Kao, E.M.; Denhoff, E.R.; Ben-Isvy, D.; Wang, L.; Talkowski, M.E.; Singer-Berk, M.; DiTroia, S.; Helm, B.M.; Breman, A.M.; Iwata-Otsubo, A.; Firth, H.; Bijlsma, E.K.; de Ravel, T.J.L.; Fusaro, V.; Nykamp, K.; Fryer, A.; Stühn, L.G.; Haack, T.B.; Korenke, G.C.; Constantinou, P.; Bujakowska, K.M.; Place, E.; Low, K.J.; Humberson, J.; Napier, M.P.; Hoffman, J.; Juusola, J.; Deardorff, M.A.; Shao, W.; Krantz, I.; Kaur, M.; Raible, S.; Dortenzio, V.; Kliesch, S.; Rothfelder, K.; Biskup, S.; Rzasa, J.; Kerkhof, J.; McConkey, H.; Sadikovic, B.; Hilton, S.; Banka, S.; Tüttelmann, F.; Conrad, D.F.
Source
In: Human Genetics and Genomics Advances . (Human Genetics and Genomics Advances, 11 April 2024, 5(2))
Subject
Language
English
ISSN
26662477