Mutations and Variants in the Cohesion Factor Genes NIPBL, SMC1A, and SMC3 in a Cohort of 30 Unrelated Patients With Cornelia de Lange Syndrome

Citation

Pié, J., Gil‐Rodríguez, M. C., Ciero, M., López‐Viñas, E., Ribate, M. P., Arnedo, M., Deardorff, M. A., Puisac, B., Legarreta, J., de Karam, J. C., Rubio, E., Bueno, I., Baldellou, A., Calvo, M. T., Casals, N., Olivares, J. L., Losada, A., Hegardt, F. G., Krantz, I. D., … Ramos, F. J. (2010). Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. American Journal of Medical Genetics Part A, 152A(4), 924–929. Portico. https://doi.org/10.1002/ajmg.a.33348

DOI:

DOI: 10.1002/ajmg.a.33348

Year of publication:

2010

Authors participating in BCBHub:

Paulino Gomez-Puertas

Publication