학술논문
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes
Document Type
Artikel
Author
Gil-Rodriguez, MC; Deardorff, MA; Ansari, M; Tan, CA; Parenti, I; Baquero-Montoya, C; Ousager, LB; Puisac, B; Hernandez-Marcos, M; Teresa-Rodrigo, ME; Marcos-Alcalde, I; Wesselink, JJ; Lusa-Bernal, S; Bijlsma, EK; Braunholz, D; Bueno-Martinez, I; Clark, D; Cooper, NS; Curry, CJ; Fisher, R; Fryer, A; Ganesh, J; Gervasini, C; Gillessen-Kaesbach, G; Guo, YR; Hakonarson, H; Hopkin, RJ; Kaur, M; Keating, BJ; Kibaek, M; Kinning, E; Kleefstra, T; Kline, AD; Kuchinskaya, E; Larizza, L; Li, YR; Liu, XZ; Mariani, M; Picker, JD; Pie, A; Pozojevic, J; Queralt, E; Richer, J; Roeder, E; Sinha, A; Scott, RH; So, J; Wusik, KA; Wilson, L; Zhang, JG; Gomez-Puertas, P; Casale, CH; Strom, L; Selicorni, A; Ramos, FJ; Jackson, LG; Krantz, ID; Das, S; Hennekam, RCM; Kaiser, FJ; FitzPatrick, DR; Pie, J
Source
Human mutation. 36(4):454-462
Subject
Language
English
English
English
ISSN
1098-1004