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

Citation

Gil-Rodríguez, M. C., Deardorff, M. A., Ansari, M., Tan, C. A., Parenti, I., Baquero-Montoya, C., Ousager, L. B., Puisac, B., Hernández-Marcos, M., Teresa-Rodrigo, M. E., Marcos-Alcalde, I., Wesselink, J.-J., Lusa-Bernal, S., Bijlsma, E. K., Braunholz, D., Bueno-Martinez, I., Clark, D., Cooper, N. S., Curry, C. J., … Pié, J. (2015). De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes. Human Mutation, 36(4), 454–462. Portico. https://doi.org/10.1002/humu.22761

DOI:

DOI: 10.1002/humu.22761

Year of publication:

2015

Authors participating in BCBHub:

Paulino Gomez-Puertas

Publication