De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, Christopher A Tan, Ilaria Parenti, Carolina Baquero-Montoya, Lilian B Ousager, Beatriz Puisac, María Hernández-Marcos, María Esperanza Teresa-Rodrigo, Iñigo Marcos-Alcalde, Jan-Jaap Wesselink, Silvia Lusa-Bernal, Emilia K Bijlsma, Diana Braunholz, Inés Bueno-Martinez, Dinah Clark, Nicola S Cooper, Cynthia J Curry, Richard FisherAlan Fryer, Jaya Ganesh, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Yiran Guo, Hakon Hakonarson, Robert J Hopkin, Maninder Kaur, Brendan J Keating, María Kibaek, Esther Kinning, Tjitske Kleefstra, Antonie D Kline, Ekaterina Kuchinskaya, Lidia Larizza, Yun R Li, Xuanzhu Liu, Milena Mariani, Jonathan D Picker, Ángeles Pié, Jelena Pozojevic, Ethel Queralt, Julie Richer, Elizabeth Roeder, Anubha Sinha, Richard H Scott, Joyce So, Katherine A Wusik, Louise Wilson, Jianguo Zhang, Paulino Gómez-Puertas, César H Casale, Lena Ström, Angelo Selicorni, Feliciano J Ramos, Laird G Jackson, Ian D Krantz, Soma Das, Raoul C M Hennekam, Frank J Kaiser, David R FitzPatrick, Juan Pié

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Biochemistry, Genetics and Molecular Biology