Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome

Citation
Gil-Salvador, M., Trujillano, L., Lucia-Campos, C., Del Rincón, J., Pamplona, P., Arnedo, M., Puisac, B., Marcos-Alcalde, Í., Gómez-Puertas, P., Ramos, F. J., Pié, J., & Latorre-Pellicer, A. (2025). Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome. Scientific Reports, 15(1). https://doi.org/10.1038/s41598-025-07268-z
DOI:
DOI: 10.1038/s41598-025-07268-z
Year of publication:
2025
Authors participating in BCBHub:
Paulino Gomez-Puertas