Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Citation
Latorre-Pellicer, A., Gil-Salvador, M., Parenti, I., Lucia-Campos, C., Trujillano, L., Marcos-Alcalde, I., Arnedo, M., Ascaso, Á., Ayerza-Casas, A., Antoñanzas-Pérez, R., Gervasini, C., Piccione, M., Mariani, M., Weber, A., Kanber, D., Kuechler, A., Munteanu, M., Khuller, K., Bueno-Lozano, G., … Pié, J. (2021). Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. Scientific Reports, 11(1). https://doi.org/10.1038/s41598-021-94958-z
DOI:
DOI: 10.1038/s41598-021-94958-z
Year of publication:
2021